Matches in Nanopublications for { ?s <http://purl.org/dc/terms/description> ?o ?g. }
- NP5605.RASB_zMesWrsA71VcCdLPj74lhdwkdp71X7FIDSlPr06g130_assertion description "[Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5605.RASB_zMesWrsA71VcCdLPj74lhdwkdp71X7FIDSlPr06g130_provenance.
- NP5612.RASAMWfUp55ZiY88Ce3Neouae1jMarDhn5Lxw6xEj5bJ8130_assertion description "[Mutation and expression analyses of the ribosomal protein gene RPL10 in an extended German sample of patients with autism spectrum disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5612.RASAMWfUp55ZiY88Ce3Neouae1jMarDhn5Lxw6xEj5bJ8130_provenance.
- NP5615.RAcjH9UsUNe8G92YHnYif2bkY1h-Ri0jftr_q-33tY1AQ130_assertion description "[Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5615.RAcjH9UsUNe8G92YHnYif2bkY1h-Ri0jftr_q-33tY1AQ130_provenance.
- NP5619.RARlblzVwSyjLH0yNgB957Dn3RZWazVqeHh8fkm7lgAQU130_assertion description "[Ribosomal protein S19 (RPS19) is frequently mutated in Diamond-Blackfan anemia (DBA), a rare congenital hypoplastic anemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5619.RARlblzVwSyjLH0yNgB957Dn3RZWazVqeHh8fkm7lgAQU130_provenance.
- NP5623.RATWcOlEM8J4Z7hk2PW0nChoVfd_UD2zyKdLQrRy8gbFc130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5623.RATWcOlEM8J4Z7hk2PW0nChoVfd_UD2zyKdLQrRy8gbFc130_provenance.
- NP5625.RATNli8a1FhggTDcGqDp-7Z_5SL4EUEDRP77mBIRoxnj8130_assertion description "[These findings provide direct evidence that abnormalities in the MAPK/RSK signalling pathway cause Coffin-Lowry syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5625.RATNli8a1FhggTDcGqDp-7Z_5SL4EUEDRP77mBIRoxnj8130_provenance.
- NP5630.RARe4A4nu0ukNRUnJ2rjNGBa1vOOa0U5NtJCyKbtz6Ozo130_assertion description "[Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5630.RARe4A4nu0ukNRUnJ2rjNGBa1vOOa0U5NtJCyKbtz6Ozo130_provenance.
- NP5634.RAXb1V34TmWVorN2zE2pdOInQc8-nl3A7bkDgwd8mr46o130_assertion description "[Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5634.RAXb1V34TmWVorN2zE2pdOInQc8-nl3A7bkDgwd8mr46o130_provenance.
- NP5640.RAYDZYUs0LshCtTDg0ssyqYS8bWyA84vX_-ETsI1KGRPE130_assertion description "[Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5640.RAYDZYUs0LshCtTDg0ssyqYS8bWyA84vX_-ETsI1KGRPE130_provenance.
- NP5641.RAcmr7Ni5mflAOy_1swy5_447cP5MIJQRSxK3dQNHkgwc130_assertion description "[Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5641.RAcmr7Ni5mflAOy_1swy5_447cP5MIJQRSxK3dQNHkgwc130_provenance.
- NP5644.RAey5b3rD52StPo63EdzDSUgkQXO7ypELCpMUZ_4kRT8E130_assertion description "[Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5644.RAey5b3rD52StPo63EdzDSUgkQXO7ypELCpMUZ_4kRT8E130_provenance.
- NP5645.RAZOwwcrr9-uW7uelLKwiRmdqwBa_zR4-gvjts6qb1xNM130_assertion description "[Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5645.RAZOwwcrr9-uW7uelLKwiRmdqwBa_zR4-gvjts6qb1xNM130_provenance.
- NP5646.RAanl4UTscsVYk08BEy6T7S1gNlE-xEXeQwyNJhDWwo2Y130_assertion description "[The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5646.RAanl4UTscsVYk08BEy6T7S1gNlE-xEXeQwyNJhDWwo2Y130_provenance.
- NP5656.RAUmLZQ-L1sOUGYpjECa22kkkbDyRpkys5XafXdFvFAWY130_assertion description "[Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5656.RAUmLZQ-L1sOUGYpjECa22kkkbDyRpkys5XafXdFvFAWY130_provenance.
- NP5657.RAbcie6F5cMQVFhu-qnah8i0nqDFeci0xJfoAH8Or0STQ130_assertion description "[Cleidocranial dysplasia (CCD) is an autosomal-dominant heritable skeletal disease caused by heterozygous mutations in the RUNX2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5657.RAbcie6F5cMQVFhu-qnah8i0nqDFeci0xJfoAH8Or0STQ130_provenance.
- NP5658.RAYI4oHbbA5O7vubnpDBCbh-LD2b0Y7iC1F3nLlO6BGto130_assertion description "[Mutations of the GREAT gene cause cryptorchidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5658.RAYI4oHbbA5O7vubnpDBCbh-LD2b0Y7iC1F3nLlO6BGto130_provenance.
- NP5659.RAbK-XJNUL9QBKOaa8-NWv_fYvk0dwn5Om_416S4FUV3A130_assertion description "[Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5659.RAbK-XJNUL9QBKOaa8-NWv_fYvk0dwn5Om_416S4FUV3A130_provenance.
- NP5660.RASHdxReVi7z9n1j8oCuyAg85iK0S4ULJgirD294gtqzc130_assertion description "[Increasing the number of diagnostic mutations in malignant hyperthermia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5660.RASHdxReVi7z9n1j8oCuyAg85iK0S4ULJgirD294gtqzc130_provenance.
- NP5665.RAR33IlEU1m30gloUEVoebJsiMKIDUjlI38sEg8SZ6uRA130_assertion description "[RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5665.RAR33IlEU1m30gloUEVoebJsiMKIDUjlI38sEg8SZ6uRA130_provenance.
- NP5666.RAfVtApL_ZOfeRKbohlLX_2jYH3XLmzl8xuilQyVdZOZM130_assertion description "[Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5666.RAfVtApL_ZOfeRKbohlLX_2jYH3XLmzl8xuilQyVdZOZM130_provenance.
- NP5673.RAQgS1ks4Bemqks861fbCDVQHzHs1wgEYnkwk3udGsQNo130_assertion description "[Central core disease due to recessive mutations in RYR1 gene: is it more common than described?]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5673.RAQgS1ks4Bemqks861fbCDVQHzHs1wgEYnkwk3udGsQNo130_provenance.
- NP5675.RAUk7eWO1338SFXnpEX6e_yV-U3sHxNwNjHh11iAcNDgo130_assertion description "[RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5675.RAUk7eWO1338SFXnpEX6e_yV-U3sHxNwNjHh11iAcNDgo130_provenance.
- NP5677.RAVfVAdvp5F-0VdUX7MW892kuQCnDZSn18oOGgRP4LTGw130_assertion description "[Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5677.RAVfVAdvp5F-0VdUX7MW892kuQCnDZSn18oOGgRP4LTGw130_provenance.
- NP5679.RAdfbXE5l7Yf9dRzUt5FW9lna75beYV8tRmk513LTJt4o130_assertion description "[Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5679.RAdfbXE5l7Yf9dRzUt5FW9lna75beYV8tRmk513LTJt4o130_provenance.
- NP5682.RAXYwOFSQDExFoXXZVIoIQg98mT57Z4hkMFn8Czyu51Mc130_assertion description "[Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5682.RAXYwOFSQDExFoXXZVIoIQg98mT57Z4hkMFn8Czyu51Mc130_provenance.
- NP5683.RAZMQGpE86k4a2hpEJowErIehu-0ub-Wkja5QjpBIGnek130_assertion description "[Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5683.RAZMQGpE86k4a2hpEJowErIehu-0ub-Wkja5QjpBIGnek130_provenance.
- NP5687.RAa1BFUUB_Q4xKaiw9I64EwfuYC4oiAOzD6FU3XegLVnU130_assertion description "[Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5687.RAa1BFUUB_Q4xKaiw9I64EwfuYC4oiAOzD6FU3XegLVnU130_provenance.
- NP5689.RAV7uxN6IZWbpvq2sSySAdS24sksaLBN7g-1MmR2q5nWU130_assertion description "[Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5689.RAV7uxN6IZWbpvq2sSySAdS24sksaLBN7g-1MmR2q5nWU130_provenance.
- NP5695.RAXkiMFEHjpFMF4cvBOzdT747feTt1NrJYMUjd7ZHgNqc130_assertion description "[To date, 24 mutations have been reported in the SACS gene of ARSACS patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5695.RAXkiMFEHjpFMF4cvBOzdT747feTt1NrJYMUjd7ZHgNqc130_provenance.
- NP5701.RAbQDCcJq6-L1IrN6v6SltEIBevWp3s0AOsg7phsK7n6w130_assertion description "[A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5701.RAbQDCcJq6-L1IrN6v6SltEIBevWp3s0AOsg7phsK7n6w130_provenance.
- NP5705.RATD7hEoO-pybPlazW2Q8Mh5rA2RFb9nK3i2FN9PBV2h8130_assertion description "[Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5705.RATD7hEoO-pybPlazW2Q8Mh5rA2RFb9nK3i2FN9PBV2h8130_provenance.
- NP5710.RAV-pNzrfQVM3aC3gXPyQph5CNcZHP1p41LGcpVGGPlbI130_assertion description "[Mutations in SBDS are associated with Shwachman-Diamond syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5710.RAV-pNzrfQVM3aC3gXPyQph5CNcZHP1p41LGcpVGGPlbI130_provenance.
- NP5711.RATiFVbdzq8BHN7Xv48J60au7xT94e9EQPNDCqY82CPjk130_assertion description "[Our findings establish a direct role for SBDS and EFL1 in catalyzing the translational activation of ribosomes in all eukaryotes, and define SDS as a ribosomopathy caused by uncoupling GTP hydrolysis from eIF6 release.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5711.RATiFVbdzq8BHN7Xv48J60au7xT94e9EQPNDCqY82CPjk130_provenance.
- NP5712.RAa02_NxF9fI5wcOfbLG7qxaIUI8PHD47La6HNHAkAb70130_assertion description "[Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5712.RAa02_NxF9fI5wcOfbLG7qxaIUI8PHD47La6HNHAkAb70130_provenance.
- NP5713.RAYsVSYDf_j_X2hJGLkPc0JS2lQcHRUpd4WOv40UGmADA130_assertion description "[Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5713.RAYsVSYDf_j_X2hJGLkPc0JS2lQcHRUpd4WOv40UGmADA130_provenance.
- NP5715.RAaLDDH0iS8gFDdm-QsOFLG2ffnLPfC3XMNv9VEOxV4KM130_assertion description "[Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5715.RAaLDDH0iS8gFDdm-QsOFLG2ffnLPfC3XMNv9VEOxV4KM130_provenance.
- NP5716.RAcj6kbQ_iREe4uAs1A2fUPBdxYM0U1pCcKwPxFuGZEig130_assertion description "[Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5716.RAcj6kbQ_iREe4uAs1A2fUPBdxYM0U1pCcKwPxFuGZEig130_provenance.
- NP5719.RAZOoUQMgJYhngrVqJo8LFwTJAuobtJ6GniZh6oDbTr-c130_assertion description "[Generalized epilepsy with febrile seizures plus: novel SCN1A mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5719.RAZOoUQMgJYhngrVqJo8LFwTJAuobtJ6GniZh6oDbTr-c130_provenance.
- NP5720.RAeQoDfEGTyiH_9-BLsRktUgOh6HwLoiKGRBo57lO5AwM130_assertion description "[Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5720.RAeQoDfEGTyiH_9-BLsRktUgOh6HwLoiKGRBo57lO5AwM130_provenance.
- NP5726.RAbJGlNw9ZqbRgNTQaHXl7SQmNL-IZIPs5ccDNK59LhUc130_assertion description "[Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5726.RAbJGlNw9ZqbRgNTQaHXl7SQmNL-IZIPs5ccDNK59LhUc130_provenance.
- NP5732.RAW1WWP5WjoywPsC6wKnB_lyDbyLFTmoxGhdF9z46h4bg130_assertion description "[Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5732.RAW1WWP5WjoywPsC6wKnB_lyDbyLFTmoxGhdF9z46h4bg130_provenance.
- NP5739.RAdu3bNinr4Z0uL8yl3s0yiG36PEX-75x03WmcIJUPiVw130_assertion description "[We identified the novel p.L1649Q mutation (c.4946T>A) in Na(v)1.1 sodium channel gene SCN1A (FHM3) in a North American kindred with FHM without associated ataxia or epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5739.RAdu3bNinr4Z0uL8yl3s0yiG36PEX-75x03WmcIJUPiVw130_provenance.
- NP5741.RAantncz2NT_firi3mI6yUqPBIx4AYNvz4OICFMQgihsQ130_assertion description "[According to the results obtained by statistical analyses for the six studied families and in agreement with the involvement of SCN1B gene in the GEFS+ syndrome in previous studies, SCN1B on GEFS+1 locus was considered as one of the potential candidate genes and was tested for mutations by direct sequencing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5741.RAantncz2NT_firi3mI6yUqPBIx4AYNvz4OICFMQgihsQ130_provenance.
- NP5744.RAeuR2hgr_TMFEbMu_jcNuehuNiscqbRNzF5Uf_U4j5A4130_assertion description "[Sodium-channel defects in benign familial neonatal-infantile seizures.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5744.RAeuR2hgr_TMFEbMu_jcNuehuNiscqbRNzF5Uf_U4j5A4130_provenance.
- NP5747.RASGw0rcSL5F5ojx_KQz-ClE7YwpIPADXZH5JAdV2hXck130_assertion description "[De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5747.RASGw0rcSL5F5ojx_KQz-ClE7YwpIPADXZH5JAdV2hXck130_provenance.
- NP5748.RAXz0gUMQVN_4GHrdCut-OhZdKrQNIdzSOnSyUDKQjLf0130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5748.RAXz0gUMQVN_4GHrdCut-OhZdKrQNIdzSOnSyUDKQjLf0130_provenance.
- NP5749.RASdOJRxQJKJKUMssyNmfGGMsjX6lTatJWUo1uP3S5iBI130_assertion description "[Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5749.RASdOJRxQJKJKUMssyNmfGGMsjX6lTatJWUo1uP3S5iBI130_provenance.
- NP5750.RAaAXpE1SBRrKKwofFiZ-PNlIkb_YLZojcC1fv4HCHSag130_assertion description "[Mutations in the skeletal muscle sodium channel gene (SCN4A) have been described in paramyotonia congenita (PMC) and hyperkalaemic periodic paralysis (HPP).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5750.RAaAXpE1SBRrKKwofFiZ-PNlIkb_YLZojcC1fv4HCHSag130_provenance.
- NP5753.RAWNmfpUa4EdNL2dKFDUG8k74Vo9K1qPkxT5dvHuXpv1E130_assertion description "[What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5753.RAWNmfpUa4EdNL2dKFDUG8k74Vo9K1qPkxT5dvHuXpv1E130_provenance.
- NP5756.RATDqiiC-8UtFFmBvJthFQn1HasqXgjYRdtPc0HqtM3mw130_assertion description "[A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5756.RATDqiiC-8UtFFmBvJthFQn1HasqXgjYRdtPc0HqtM3mw130_provenance.
- NP5761.RARap_AV2sn_sAEIS0GBuY3E-2Cj4g803cJ6T1Q7ll_hg130_assertion description "[Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5761.RARap_AV2sn_sAEIS0GBuY3E-2Cj4g803cJ6T1Q7ll_hg130_provenance.
- NP5763.RAXa7l3CjO9B9938RpWCrw3ND4shdY3qnqiZcz-_0utYE130_assertion description "[Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5763.RAXa7l3CjO9B9938RpWCrw3ND4shdY3qnqiZcz-_0utYE130_provenance.
- NP5766.RAeT75ZIULjZ_gojAFdpJTZft20lE_AsXdRtGXpUlEhVE130_assertion description "[Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5766.RAeT75ZIULjZ_gojAFdpJTZft20lE_AsXdRtGXpUlEhVE130_provenance.
- NP5777.RAQT7YAkIqmHnuloXlpUGnV47l25bE4jcNSV7vyZxDiaU130_assertion description "[SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5777.RAQT7YAkIqmHnuloXlpUGnV47l25bE4jcNSV7vyZxDiaU130_provenance.
- NP5779.RAfo1U1oQPMfKJnxgJU3hrE3UaVZIbj5JD2wx8OjlpNxg130_assertion description "[Biophysical characterization of a new SCN5A mutation S1333Y in a SIDS infant linked to long QT syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5779.RAfo1U1oQPMfKJnxgJU3hrE3UaVZIbj5JD2wx8OjlpNxg130_provenance.
- NP5780.RAcTHIhClnvt5VJ4wevbOrpfMH0-XKX-kq2G6sAbgDEsg130_assertion description "[A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5780.RAcTHIhClnvt5VJ4wevbOrpfMH0-XKX-kq2G6sAbgDEsg130_provenance.
- NP5781.RAbnOpFDiBUUKRqItulzm8liFgNSHpE1QWXASr0Dx3yb0130_assertion description "[In utero onset of long QT syndrome with atrioventricular block and spontaneous or lidocaine-induced ventricular tachycardia: compound effects of hERG pore region mutation and SCN5A N-terminus variant.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5781.RAbnOpFDiBUUKRqItulzm8liFgNSHpE1QWXASr0Dx3yb0130_provenance.
- NP5797.RASeLwZUvsvdOm_DIyTPi59JyHq6XB2KuVrYiI76HImlo130_assertion description "[A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5797.RASeLwZUvsvdOm_DIyTPi59JyHq6XB2KuVrYiI76HImlo130_provenance.
- NP5801.RAZW1VQJDV54RusgGzQdxjuc--37z8h2Ti4xzUwhV1mSg130_assertion description "[Sodium channel mutation in irritable bowel syndrome: evidence for an ion channelopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5801.RAZW1VQJDV54RusgGzQdxjuc--37z8h2Ti4xzUwhV1mSg130_provenance.
- NP5803.RARodMM7leVutpbHJkwGXDpxo7KayeoEEZ0ESbmNo46Y8130_assertion description "[Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5803.RARodMM7leVutpbHJkwGXDpxo7KayeoEEZ0ESbmNo46Y8130_provenance.
- NP5812.RAWBUDtfjyexfZnbLlGXQ3JWI1t7-tKYRqtVe8fkHIrjo130_assertion description "[Biophysical characterization of a new SCN5A mutation S1333Y in a SIDS infant linked to long QT syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5812.RAWBUDtfjyexfZnbLlGXQ3JWI1t7-tKYRqtVe8fkHIrjo130_provenance.
- NP5815.RARrzDo6XpRrdGjvTyGHrJe5necesjC9sKlRLVcLIbalY130_assertion description "[Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5815.RARrzDo6XpRrdGjvTyGHrJe5necesjC9sKlRLVcLIbalY130_provenance.
- NP5818.RAYPLmHfQpiuU08pohKlilaIK9NGjX52XRpKEuUo2XNLo130_assertion description "[Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5818.RAYPLmHfQpiuU08pohKlilaIK9NGjX52XRpKEuUo2XNLo130_provenance.
- NP5820.RAR129HpIUQC2ibaVhvcrvvq98tUTtUMcQndmEQSeuGAQ130_assertion description "[SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5820.RAR129HpIUQC2ibaVhvcrvvq98tUTtUMcQndmEQSeuGAQ130_provenance.
- NP5824.RAetYcixIqWfv2JRs9ljSJ37DpTEXftujz8dLvVaGBgg4130_assertion description "[A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5824.RAetYcixIqWfv2JRs9ljSJ37DpTEXftujz8dLvVaGBgg4130_provenance.
- NP5829.RAYYtbx_K42YxYjGzJbsg9uncK9eaGSyt6Nx6ai66lnpc130_assertion description "[Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5829.RAYYtbx_K42YxYjGzJbsg9uncK9eaGSyt6Nx6ai66lnpc130_provenance.
- NP5833.RAdyYDdCo6kTly79T0PfUMv7uyz-ZO6xORACT4hB1d3bQ130_assertion description "[Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5833.RAdyYDdCo6kTly79T0PfUMv7uyz-ZO6xORACT4hB1d3bQ130_provenance.
- NP5837.RARfuVBD90msduzJyT8ugD822vLbHJEgF7kOUjVT8Fb8A130_assertion description "[Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5837.RARfuVBD90msduzJyT8ugD822vLbHJEgF7kOUjVT8Fb8A130_provenance.
- NP5838.RASqFpyWkFk8pRGkROuULWCzdufsODuuTGZvkzL_DnaLM130_assertion description "[Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5838.RASqFpyWkFk8pRGkROuULWCzdufsODuuTGZvkzL_DnaLM130_provenance.
- NP5840.RAa2PGeEELp3LrSpEErIaOzQM56k5tgAE2cYn5WNv0hg4130_assertion description "[Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5840.RAa2PGeEELp3LrSpEErIaOzQM56k5tgAE2cYn5WNv0hg4130_provenance.
- NP5846.RAb3O5NcBBcxEpoqnGzK_1ZvTqr9L2AP6U0BJzlR-m2-c130_assertion description "[Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5846.RAb3O5NcBBcxEpoqnGzK_1ZvTqr9L2AP6U0BJzlR-m2-c130_provenance.
- NP5854.RAUkRHM7cOhLo8tRdjZxl-S5PgL94RAaBrkYqauviMtcs130_assertion description "[Somatic SDHB mutation in an extraadrenal pheochromocytoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5854.RAUkRHM7cOhLo8tRdjZxl-S5PgL94RAaBrkYqauviMtcs130_provenance.
- NP5856.RAWSKMRmhkY9tvh7mF22EAOZ3YADI_YbfKFURP3iHz2rA130_assertion description "[To further investigate the role of SDHD and SDHB in the development of these tumours we determined the occurrence of germline SDHD and SDHB mutations in four patients with a family history of phaeochromocytoma with associated head and neck paraganglioma, one patient with a family history of phaeochromocytoma only and two patients with apparently sporadic extra-adrenal phaeochromocytoma, one of whom had early onset disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5856.RAWSKMRmhkY9tvh7mF22EAOZ3YADI_YbfKFURP3iHz2rA130_provenance.
- NP5857.RAR5JotXsJAqJiIb0QauwZU91bh3Ds4AtOHSU9IgeGzVk130_assertion description "[Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5857.RAR5JotXsJAqJiIb0QauwZU91bh3Ds4AtOHSU9IgeGzVk130_provenance.
- NP5879.RATkACS_0laGT-udG4W8dF0pWnrgOm3Gw3pgX11cfoQWI130_assertion description "[Replacement of Leu227 by Pro in thyroxine-binding globulin (TBG) is associated with complete TBG deficiency in three of eight families with this inherited defect.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5879.RATkACS_0laGT-udG4W8dF0pWnrgOm3Gw3pgX11cfoQWI130_provenance.
- NP5880.RAXw_dO3D9eLwPgJ7r0ljN6MVm_9uPSETukxwOVf8c8SE130_assertion description "[Sequencing of the variant thyroxine-binding globulin (TBG)-Quebec reveals two nucleotide substitutions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5880.RAXw_dO3D9eLwPgJ7r0ljN6MVm_9uPSETukxwOVf8c8SE130_provenance.
- NP5885.RAe-HLB0RAQnkxGYn1SO5YgFjQOSI2pFsQ2M6kqodYBbA130_assertion description "[Antithrombin Phe229Leu: a new homozygous variant leading to spontaneous antithrombin polymerization in vivo associated with severe childhood thrombosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5885.RAe-HLB0RAQnkxGYn1SO5YgFjQOSI2pFsQ2M6kqodYBbA130_provenance.
- NP5896.RAde4eDvypuoPWYDgUrIfW-DzWWcPN4W7zJpPUhkNXngY130_assertion description "[Mutations in the C1 inhibitor gene that result in hereditary angioneurotic edema.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5896.RAde4eDvypuoPWYDgUrIfW-DzWWcPN4W7zJpPUhkNXngY130_provenance.
- NP5908.RAaUqRPU7DrTe21I5fCaAtYjhVROy9CAH1HRXLMcIZKW8130_assertion description "[De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5908.RAaUqRPU7DrTe21I5fCaAtYjhVROy9CAH1HRXLMcIZKW8130_provenance.
- NP5909.RAXGokb-JQVxCHLIHOMd4pEKhhZmylDaJEQ-UJxvKltXM130_assertion description "[Closely positioned somatic SETBP1 mutations encoding changes in Asp868, Ser869, Gly870, Ile871 and Asp880, which match germline mutations in Schinzel-Giedion syndrome (SGS), were detected in 17% of secondary acute myeloid leukemias (sAML) and 15% of chronic myelomonocytic leukemia (CMML) cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5909.RAXGokb-JQVxCHLIHOMd4pEKhhZmylDaJEQ-UJxvKltXM130_provenance.
- NP5911.RAe0nYSvxEuw2khrr4iCGTUHxuC607pDNOdluj8tLiM-o130_assertion description "[Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5911.RAe0nYSvxEuw2khrr4iCGTUHxuC607pDNOdluj8tLiM-o130_provenance.
- NP5912.RAetMGnF4K4iia_MCE9OagnhUtvLVm-IeEXpKu2ayL5WA130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5912.RAetMGnF4K4iia_MCE9OagnhUtvLVm-IeEXpKu2ayL5WA130_provenance.
- NP5920.RAUU2cWKp8dtkLgPBjhp_B1ckGTJMGoIZE3qkNJlFC1uY130_assertion description "[Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5920.RAUU2cWKp8dtkLgPBjhp_B1ckGTJMGoIZE3qkNJlFC1uY130_provenance.
- NP5924.RAd581EoHu_7RoT1WKHG8l8LFfTVa6M_SAsHc5dAsM5RA130_assertion description "[Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5924.RAd581EoHu_7RoT1WKHG8l8LFfTVa6M_SAsHc5dAsM5RA130_provenance.
- NP5925.RAWe2Yy75xwmLhPbJNJc_trAF4Hg8s9pptzXT2GeJFZhg130_assertion description "[Mutations in the sarcoglycan genes in patients with myopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5925.RAWe2Yy75xwmLhPbJNJc_trAF4Hg8s9pptzXT2GeJFZhg130_provenance.
- NP5926.RAYzWSVpWXpH_W8kgVeQuy9Kh0k0frNtAmz_Nbd5SqXTM130_assertion description "[Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5926.RAYzWSVpWXpH_W8kgVeQuy9Kh0k0frNtAmz_Nbd5SqXTM130_provenance.
- NP5927.RAVcFNS8okQw0guqn4J__y-_e_SbBbKEh7D_ZgiIHwiRE130_assertion description "[Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5927.RAVcFNS8okQw0guqn4J__y-_e_SbBbKEh7D_ZgiIHwiRE130_provenance.
- NP5937.RAXWJvcn5lpylX6HoMw12WedYqLCQtElra0ouvyNAV87w130_assertion description "[Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5937.RAXWJvcn5lpylX6HoMw12WedYqLCQtElra0ouvyNAV87w130_provenance.
- NP5942.RAarY08ECfMvTQ2bDJRpI9wASjPQfd-tvq_yvY9_zsGSE130_assertion description "[The epsilon sarcoglycan (SGCE) gene is an important cause of MDS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5942.RAarY08ECfMvTQ2bDJRpI9wASjPQfd-tvq_yvY9_zsGSE130_provenance.
- NP5957.RAb7oFw3URp1uOZcX8ofY6zmRRYEuQfJvylzWDh_harLc130_assertion description "[The X-linked lymphoproliferative (XLP) syndrome is caused by mutations or deletions in the SH2D1A gene that encodes an SH2 domain protein named SH2D1A or SAP.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5957.RAb7oFw3URp1uOZcX8ofY6zmRRYEuQfJvylzWDh_harLc130_provenance.
- NP5959.RAequczQ9GOlQgrE1gIgTE-63AP6zhkF2Bh6ZQ_RUHCeM130_assertion description "[Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5959.RAequczQ9GOlQgrE1gIgTE-63AP6zhkF2Bh6ZQ_RUHCeM130_provenance.
- NP5962.RAW3tmpIYpYImTE68CPEN0gRO8Ji_zFtwOfseqgW80rF8130_assertion description "[In this article, the SH3BP2 gene in nonfamilial cherubism was examined.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5962.RAW3tmpIYpYImTE68CPEN0gRO8Ji_zFtwOfseqgW80rF8130_provenance.
- NP5964.RATFvR-Zzhsusbr2jUzDipygIGLC0h_qNGR8FI1vFi3Ps130_assertion description "[Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5964.RATFvR-Zzhsusbr2jUzDipygIGLC0h_qNGR8FI1vFi3Ps130_provenance.
- NP5967.RAZ8ut1tAmtRKDthkQhJNxC1DyYKHzkbht52ZJ-vDtZfI130_assertion description "[De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5967.RAZ8ut1tAmtRKDthkQhJNxC1DyYKHzkbht52ZJ-vDtZfI130_provenance.
- NP5968.RAdcgGhwb-ELWcz1dlU7NIeg6vmOhabq0QGQ0eJG_ImWQ130_assertion description "[The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5968.RAdcgGhwb-ELWcz1dlU7NIeg6vmOhabq0QGQ0eJG_ImWQ130_provenance.
- NP5976.RAaW939pTFX_Tj4CYDnl-5C5WppCNQCy18mOAxDXIPzVY130_assertion description "[A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5976.RAaW939pTFX_Tj4CYDnl-5C5WppCNQCy18mOAxDXIPzVY130_provenance.
- NP5977.RAfhBiEqOc9Bk5XOFI9V_kY_Jjf31aiKMnMay3XxnOXeo130_assertion description "[Here, we analyze at the molecular level a phenotype of congenital sucrase-isomaltase deficiency in which sucrase-isomaltase (SI) is not transported to the brush border membrane but accumulates as a mannose-rich precursor in the endoplasmic reticulum (ER), ER-Golgi intermediate compartment, and the cis-Golgi, where it is finally degraded.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5977.RAfhBiEqOc9Bk5XOFI9V_kY_Jjf31aiKMnMay3XxnOXeo130_provenance.
- NP5983.RAS5oeyCvMBA66FJ3O6PMHpZQxmfAp0s2A9rQLkNRRMU8130_assertion description "[Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5983.RAS5oeyCvMBA66FJ3O6PMHpZQxmfAp0s2A9rQLkNRRMU8130_provenance.
- NP5985.RAfbn-4LSg92Xcr5YqL-uP8HdTX8s8-2_sq4t2Eqm0Znc130_assertion description "[Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5985.RAfbn-4LSg92Xcr5YqL-uP8HdTX8s8-2_sq4t2Eqm0Znc130_provenance.
- NP5987.RAW70USHbJJ788UMWMSv37yGdE8Wl2ANwgP9PUZKvuhwc130_assertion description "[Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5987.RAW70USHbJJ788UMWMSv37yGdE8Wl2ANwgP9PUZKvuhwc130_provenance.