Nanopublications LDF server

Matches in Nanopublications for { ?s <http://purl.org/dc/terms/description> ?o ?g. }

• NP5629.RAxzLvJo-oiDoT-tpuhuc45nUB1EXqRfUPVANqmAkeBzs130_assertion description "[Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5629.RAxzLvJo-oiDoT-tpuhuc45nUB1EXqRfUPVANqmAkeBzs130_provenance.
• NP5648.RA24RHnBCPVY5O_8w2fs5LQaMM2bYyvMiRjqw8qGB8qWE130_assertion description "[Our findings support a model for FPD/AML in which haploinsufficiency of CBFA2 causes an autosomal dominant congenital platelet defect and predisposes to the acquisition of additional mutations that cause leukaemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5648.RA24RHnBCPVY5O_8w2fs5LQaMM2bYyvMiRjqw8qGB8qWE130_provenance.
• NP5650.RAz1Aui3AyMkMWI8JJ8UZRG6pzxkEi4LvgekdHwitpP5I130_assertion description "[CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5650.RAz1Aui3AyMkMWI8JJ8UZRG6pzxkEi4LvgekdHwitpP5I130_provenance.
• NP5651.RAzgTstjVqRbRsS0cylynJA6mGP6oofVyh9FGQblreEw4130_assertion description "[Chromosomal translocations, deletions, insertions, nonsense and splice-site mutations, as well as missense mutations of the RUNX2 gene have been described in CCD patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5651.RAzgTstjVqRbRsS0cylynJA6mGP6oofVyh9FGQblreEw4130_provenance.
• NP5652.RA4kXlRw3JHpLKmG72R4_6zKmy33V7QQZnFQSTneuPs7M130_assertion description "[Cleidocranial dysplasia (CCD) is an autosomal dominant heritable skeletal disease caused by heterozygous mutations in the osteoblast-specific transcription factor RUNX2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5652.RA4kXlRw3JHpLKmG72R4_6zKmy33V7QQZnFQSTneuPs7M130_provenance.
• NP5674.RA4mIeh2K8ZFk_NG1I2_FDcS-be8_3KO55kupiNpMYy7A130_assertion description "[Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5674.RA4mIeh2K8ZFk_NG1I2_FDcS-be8_3KO55kupiNpMYy7A130_provenance.
• NP5678.RA_grLLYQW-pPzLNCjoARk9BLKWQYImxfW98MhMVGO9Og130_assertion description "[To date, at least 42 RYR1 mutations have been described that cause MH and/or central core disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5678.RA_grLLYQW-pPzLNCjoARk9BLKWQYImxfW98MhMVGO9Og130_provenance.
• NP5686.RA2ROTTsXIY7BO2IvrRarWIWdM8QU2yt8acDFGotMRhzU130_assertion description "[Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5686.RA2ROTTsXIY7BO2IvrRarWIWdM8QU2yt8acDFGotMRhzU130_provenance.
• NP5707.RA2-KM_ZB4Op5Q31UaHkJc_H1WTE8gn_cFnV1b3G0V3Xc130_assertion description "[Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5707.RA2-KM_ZB4Op5Q31UaHkJc_H1WTE8gn_cFnV1b3G0V3Xc130_provenance.
• NP5708.RAwes7dFvP4Qae8R78pVnvocCufzFJQoB4eVxuSD1l9VI130_assertion description "[Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5708.RAwes7dFvP4Qae8R78pVnvocCufzFJQoB4eVxuSD1l9VI130_provenance.
• NP5717.RA82bRm38x16-yiVZKJGrxWQeBjVFNFO5482AkzqR2xd0130_assertion description "[Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5717.RA82bRm38x16-yiVZKJGrxWQeBjVFNFO5482AkzqR2xd0130_provenance.
• NP5718.RA_GEbJU639Zjp8tiYrVBxrkyg5FMb9zogvz7Q74VJXJo130_assertion description "[Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5718.RA_GEbJU639Zjp8tiYrVBxrkyg5FMb9zogvz7Q74VJXJo130_provenance.
• NP5721.RA2X1rgePEUr7YVYY4R2kn_XPyAAAzLqhIhXkdJ5DZx3A130_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." NP5721.RA2X1rgePEUr7YVYY4R2kn_XPyAAAzLqhIhXkdJ5DZx3A130_provenance.
• NP5728.RA6fqRLDnmLoHJuNtuiiH7T2LTNaLhmj99VH2C1j9HjMo130_assertion description "[Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5728.RA6fqRLDnmLoHJuNtuiiH7T2LTNaLhmj99VH2C1j9HjMo130_provenance.
• NP5729.RA2J8AVBeOpY5gOLPSbPmKQlHal--JWaF7adWEsZnBUm0130_assertion description "[De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5729.RA2J8AVBeOpY5gOLPSbPmKQlHal--JWaF7adWEsZnBUm0130_provenance.
• NP5730.RAxKhd_pi_8_tNK4-BiIMAkT3I_DrJS54rEtI9fXbngRo130_assertion description "[Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5730.RAxKhd_pi_8_tNK4-BiIMAkT3I_DrJS54rEtI9fXbngRo130_provenance.
• NP5734.RA5-27VtBehlcaPX_eZR3gCLcD83PiAKYksNGlGfC7fPs130_assertion description "[The SCN1A gene was screened for mutations in three unrelated Japanese families with generalized epilepsy with febrile seizure plus (GEFS+), febrile seizure with myoclonic seizures, or intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5734.RA5-27VtBehlcaPX_eZR3gCLcD83PiAKYksNGlGfC7fPs130_provenance.
• NP5736.RA0Ht69GdTQfxtplOLQL9qKr7DI2XG6rOvJIzDYg2XHiM130_assertion description "[Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5736.RA0Ht69GdTQfxtplOLQL9qKr7DI2XG6rOvJIzDYg2XHiM130_provenance.
• NP5738.RAxfwhGHeyRxPYxeTSOpQ7eNNFu5cH0CtneyjK_ZWQIJg130_assertion description "[Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5738.RAxfwhGHeyRxPYxeTSOpQ7eNNFu5cH0CtneyjK_ZWQIJg130_provenance.
• NP5743.RA1o0E-7ZCwA6mOTnxM_PsTGwUckpK042g_AG6YzDJSS0130_assertion description "[Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5743.RA1o0E-7ZCwA6mOTnxM_PsTGwUckpK042g_AG6YzDJSS0130_provenance.
• NP5746.RA78EatGmiAPailaYRPUOAfjIuHgYixDXEIS1PwDm-VaE130_assertion description "[Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5746.RA78EatGmiAPailaYRPUOAfjIuHgYixDXEIS1PwDm-VaE130_provenance.
• NP5755.RA18BnH4zPSasiemZobSDUHp9t2OH7EY_PC7ApWFS01jQ130_assertion description "[Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5755.RA18BnH4zPSasiemZobSDUHp9t2OH7EY_PC7ApWFS01jQ130_provenance.
• NP5759.RA6OEnJVuH83ub5g8Ypm6hSzKx9bLvuaxE_DBIuLRdxWY130_assertion description "[Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5759.RA6OEnJVuH83ub5g8Ypm6hSzKx9bLvuaxE_DBIuLRdxWY130_provenance.
• NP5760.RA4Ugr0xE2jm4c6QbGEH-ddu1OXnYVfcPZs08TTvN72Q8130_assertion description "[Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5760.RA4Ugr0xE2jm4c6QbGEH-ddu1OXnYVfcPZs08TTvN72Q8130_provenance.
• NP5764.RA8NV5oRm_QJg2E8LFkQE6t9HYP0lUG8ZkPYCgXTWrKLk130_assertion description "[Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5764.RA8NV5oRm_QJg2E8LFkQE6t9HYP0lUG8ZkPYCgXTWrKLk130_provenance.
• NP5768.RAxQY8HfCXI0vhZmPyrxVjfsdsidBo9bQj9imASY7OGw8130_assertion description "[Cold extends electromyography distinction between ion channel mutations causing myotonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5768.RAxQY8HfCXI0vhZmPyrxVjfsdsidBo9bQj9imASY7OGw8130_provenance.
• NP5770.RA894nm7vlKziZjHnUbYCXvbrEljpNptFL8IcQ85Y-KoY130_assertion description "[A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5770.RA894nm7vlKziZjHnUbYCXvbrEljpNptFL8IcQ85Y-KoY130_provenance.
• NP5772.RAwgMhvMcBpcy0jZ3k5-lL6bmfSHKGCA1Nn-GNeYkzldc130_assertion description "[Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5772.RAwgMhvMcBpcy0jZ3k5-lL6bmfSHKGCA1Nn-GNeYkzldc130_provenance.
• NP5776.RA53pzL_zRHuzqOYNh8-orwXLboGivnMhmrmSZ7HBlENI130_assertion description "[Myasthenic syndrome caused by mutation of the SCN4A sodium channel.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5776.RA53pzL_zRHuzqOYNh8-orwXLboGivnMhmrmSZ7HBlENI130_provenance.
• NP5784.RA4MvPFGiuZMAsfFhMGvLukJUZg-hQt588U0nmWfc1B-w130_assertion description "[The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5784.RA4MvPFGiuZMAsfFhMGvLukJUZg-hQt588U0nmWfc1B-w130_provenance.
• NP5789.RA6MTosbdXKNQZVN1PCkfn2frE4zK_3gGHX21STfZwKfA130_assertion description "[Distinct functional defect of three novel Brugada syndrome related cardiac sodium channel mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5789.RA6MTosbdXKNQZVN1PCkfn2frE4zK_3gGHX21STfZwKfA130_provenance.
• NP5791.RA-VVBx9Jo8OxzXa0iTIKVduFfyGLRbNThCbWzUxj4ZEE130_assertion description "[Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na+ channel.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5791.RA-VVBx9Jo8OxzXa0iTIKVduFfyGLRbNThCbWzUxj4ZEE130_provenance.
• NP5793.RAx8Dooc6oBNJBgyK9ug01vrSVQ777-qTDNR2AovbSkMs130_assertion description "[Analyses of a novel SCN5A mutation (C1850S): conduction vs. repolarization disorder hypotheses in the Brugada syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5793.RAx8Dooc6oBNJBgyK9ug01vrSVQ777-qTDNR2AovbSkMs130_provenance.
• NP5794.RA32By02XWwbJGiG7eBj05saYi25Ut0ttdZ3_wdCcowS4130_assertion description "[Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5794.RA32By02XWwbJGiG7eBj05saYi25Ut0ttdZ3_wdCcowS4130_provenance.
• NP5795.RA7OdSOqu8vV-uELS_epuJlkxsxOvhvNEltR_NR9DYH4s130_assertion description "[The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5795.RA7OdSOqu8vV-uELS_epuJlkxsxOvhvNEltR_NR9DYH4s130_provenance.
• NP5796.RA-t6n_mGqmgfwUeE7KqSSxxdgVTBWSaFwIXx6o6Vgr58130_assertion description "[A sodium channel pore mutation causing Brugada syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5796.RA-t6n_mGqmgfwUeE7KqSSxxdgVTBWSaFwIXx6o6Vgr58130_provenance.
• NP5800.RA9WnCCzgdowDlArfE9O72FeVsphRN2UDZrcdK9lWMwgQ130_assertion description "[Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5800.RA9WnCCzgdowDlArfE9O72FeVsphRN2UDZrcdK9lWMwgQ130_provenance.
• NP5804.RA7EjdpOtOI9_YB_VTYxcKCg7pgabxN1nB6niweodvdts130_assertion description "[A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5804.RA7EjdpOtOI9_YB_VTYxcKCg7pgabxN1nB6niweodvdts130_provenance.
• NP5809.RA5g_aT-fMuHw4CTQnpXFE1g8c4U-EtezZ83PlYj0f_YY130_assertion description "[Cardiac sodium channel mutation in atrial fibrillation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5809.RA5g_aT-fMuHw4CTQnpXFE1g8c4U-EtezZ83PlYj0f_YY130_provenance.
• NP5811.RA1rugaVwTRvBkPgssUK2PcmxMjhkzxifbu3Tv_qp4XVo130_assertion description "[Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5811.RA1rugaVwTRvBkPgssUK2PcmxMjhkzxifbu3Tv_qp4XVo130_provenance.
• NP5822.RA1LJVSX_4TlfbsrWd502FSThETNmGEf17mH7C5lBdh7A130_assertion description "[Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5822.RA1LJVSX_4TlfbsrWd502FSThETNmGEf17mH7C5lBdh7A130_provenance.
• NP5823.RAykmW7IU4WhsHlJXDrfCuohBXCMeBgawdjgPgVSZ27Ao130_assertion description "[SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5823.RAykmW7IU4WhsHlJXDrfCuohBXCMeBgawdjgPgVSZ27Ao130_provenance.
• NP5825.RA9A7a10yr2G3GAY7OsfLeUf3BL-VeuaqQY9_u26e53HM130_assertion description "[Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5825.RA9A7a10yr2G3GAY7OsfLeUf3BL-VeuaqQY9_u26e53HM130_provenance.
• NP5830.RAywvkQF0vW3iqSooRRq0c8B-0yPuHrrESBEgiDGT39fQ130_assertion description "[Genetic analysis of the epithelial sodium channel in Liddle's syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5830.RAywvkQF0vW3iqSooRRq0c8B-0yPuHrrESBEgiDGT39fQ130_provenance.
• NP5832.RA1iKUFOpqJzYu7AlwgIrrKQKPeGcDzvwJhmrGhnQ9STk130_assertion description "[Liddle's syndrome caused by a novel mutation in the proline-rich PY motif of the epithelial sodium channel beta-subunit.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5832.RA1iKUFOpqJzYu7AlwgIrrKQKPeGcDzvwJhmrGhnQ9STk130_provenance.
• NP5852.RA_hy-eVSsB6IrnLNf-XJitTaI1plTfky_5fv7XVpH_Bw130_assertion description "[A novel succinate dehydrogenase subunit B gene mutation, H132P, causes familial malignant sympathetic extraadrenal paragangliomas.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5852.RA_hy-eVSsB6IrnLNf-XJitTaI1plTfky_5fv7XVpH_Bw130_provenance.
• NP5863.RAxlbKsQF6BdBWjMdybukOs0ZScvourKcgLRnAjfPk2us130_assertion description "[Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5863.RAxlbKsQF6BdBWjMdybukOs0ZScvourKcgLRnAjfPk2us130_provenance.
• NP5864.RA8ibqXTKfT3oqkK1p_TErHt-cAfj-h5dS5JF4jfTjiQE130_assertion description "[Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5864.RA8ibqXTKfT3oqkK1p_TErHt-cAfj-h5dS5JF4jfTjiQE130_provenance.
• NP5866.RA8sGy7aXz6Rs0JzZkoDDrt7ucLon9oEvvebE1gLJk4rA130_assertion description "[Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5866.RA8sGy7aXz6Rs0JzZkoDDrt7ucLon9oEvvebE1gLJk4rA130_provenance.
• NP5867.RA11kq7VxDgDvuKgstF-J0QWIe8x7XVQ8eAdt-Zd6jcXk130_assertion description "[Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5867.RA11kq7VxDgDvuKgstF-J0QWIe8x7XVQ8eAdt-Zd6jcXk130_provenance.
• NP5874.RA0Z80U3QBaf_h6WPShpy-a9xGf9ZGDJmWtt3grPaXO-0130_assertion description "[Decreased cortisol-binding affinity of transcortin Leuven is associated with an amino acid substitution at residue-93.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5874.RA0Z80U3QBaf_h6WPShpy-a9xGf9ZGDJmWtt3grPaXO-0130_provenance.
• NP5877.RAzPLzbnctt9hUQ2YzdXAngewv6bXvZIVJn9n2OjAAUzc130_assertion description "[A mutation causing reduced biological activity and stability of thyroxine-binding globulin probably as a result of abnormal glycosylation of the molecule.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5877.RAzPLzbnctt9hUQ2YzdXAngewv6bXvZIVJn9n2OjAAUzc130_provenance.
• NP5878.RAxmGI4Udvyo5tXI6_qTaUkPhl2OFgUMA5VyKrm7OCx58130_assertion description "[Sequence of the variant thyroxine-binding globulin (TBG) in a Montreal family with partial TBG deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5878.RAxmGI4Udvyo5tXI6_qTaUkPhl2OFgUMA5VyKrm7OCx58130_provenance.
• NP5881.RAzw0wdS79EyxYDB5ZxjzrDKelOS-ycm9h-lPE-Nh5Ufc130_assertion description "[Thyroxine-binding globulin variant (TBG-Kumamoto): identification of a point mutation and genotype analysis of its family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5881.RAzw0wdS79EyxYDB5ZxjzrDKelOS-ycm9h-lPE-Nh5Ufc130_provenance.
• NP5882.RA2wtPYhSQHGUQRq11H6ishabshiYzO7oeDdTlG4TK8jw130_assertion description "[Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5882.RA2wtPYhSQHGUQRq11H6ishabshiYzO7oeDdTlG4TK8jw130_provenance.
• NP5884.RA81C18c8dV5fJUqFcT3OcHUhujGf6epKpJ7sRjnNWZ9g130_assertion description "[Five novel and four recurrent point mutations in the antithrombin gene causing venous thrombosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5884.RA81C18c8dV5fJUqFcT3OcHUhujGf6epKpJ7sRjnNWZ9g130_provenance.
• NP5887.RAxnlR42FXiHRx5U3Bp_wmIr8xs9Fcy7xPkK0rD_8Y8kM130_assertion description "[Intracerebral hemorrhage associated with a novel antithrombin gene mutation in a neonate.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5887.RAxnlR42FXiHRx5U3Bp_wmIr8xs9Fcy7xPkK0rD_8Y8kM130_provenance.
• NP5889.RA5khf39PEMnDz3nCDoExsACdrZf9krJJlrPDL8DVbjIo130_assertion description "[Impaired cotranslational processing as a mechanism for type I antithrombin deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5889.RA5khf39PEMnDz3nCDoExsACdrZf9krJJlrPDL8DVbjIo130_provenance.
• NP5890.RAy5gwVDp4Ep7K1J8SEDyZfokP4dnKHwjgKHKVOhdum40130_assertion description "[The molecular basis of antithrombin deficiency in Belgian and Dutch families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5890.RAy5gwVDp4Ep7K1J8SEDyZfokP4dnKHwjgKHKVOhdum40130_provenance.
• NP5893.RA67haMkIVuZmh9M3ikSTtOOF-NTpLStPGDC_WrXZmeI8130_assertion description "[Homozygous deficiency of heparin cofactor II: relevance of P17 glutamate residue in serpins, relationship with conformational diseases, and role in thrombosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5893.RA67haMkIVuZmh9M3ikSTtOOF-NTpLStPGDC_WrXZmeI8130_provenance.
• NP5900.RA_XI8BP7HM2oLTbIxu-OaLvQoaJE-XmCjWvlh_VS-szM130_assertion description "[Mutational spectrum and geno-phenotype correlation in Chinese families with hereditary angioedema.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5900.RA_XI8BP7HM2oLTbIxu-OaLvQoaJE-XmCjWvlh_VS-szM130_provenance.
• NP5919.RA_0ajoYTjsX9N2J-wuxG7ZhVoMp5V5pLYUKvifODRLvY130_assertion description "[Partial deficiency of surfactant protein B in an infant with chronic lung disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5919.RA_0ajoYTjsX9N2J-wuxG7ZhVoMp5V5pLYUKvifODRLvY130_provenance.
• NP5922.RA7viaFJM_qa3uNFAeJrUDhNAB9r8AiPHlSDlGadFFjtI130_assertion description "[Recently, two seemingly dominant-negative mutations of the pro-SP-C-encoding gene (SFTPC, MIM 178620), were reported in families with vertically-inherited interstitial lung disease (Nogee et al.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5922.RA7viaFJM_qa3uNFAeJrUDhNAB9r8AiPHlSDlGadFFjtI130_provenance.
• NP5928.RA-CK-JYEH1ej3RF8vEnh1Lephyn3rhFNpcX20dDnBF8Y130_assertion description "[Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5928.RA-CK-JYEH1ej3RF8vEnh1Lephyn3rhFNpcX20dDnBF8Y130_provenance.
• NP5935.RAzTkp6Vy_4N28-HutBxrvyv2JpvYZ_j_cXawrs3WfB24130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5935.RAzTkp6Vy_4N28-HutBxrvyv2JpvYZ_j_cXawrs3WfB24130_provenance.
• NP5936.RA2_bGRCw2J5YWqEg-Ruyce94ZMp7J3HdjU6URzbf0IyQ130_assertion description "[A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5936.RA2_bGRCw2J5YWqEg-Ruyce94ZMp7J3HdjU6URzbf0IyQ130_provenance.
• NP5938.RAx-byRu1dwxibn0vQNOO1AJeVvmNvdlOz6TJP7qDR8o4130_assertion description "[Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5938.RAx-byRu1dwxibn0vQNOO1AJeVvmNvdlOz6TJP7qDR8o4130_provenance.
• NP5939.RAzvXkDsaKiFseIanU62Mn4PsRHnrdEroBFSQXJHd7VGI130_assertion description "[Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5939.RAzvXkDsaKiFseIanU62Mn4PsRHnrdEroBFSQXJHd7VGI130_provenance.
• NP5940.RAzYFRe_A0mHx_urKOLk00RiEM69lYiyJGZz24MbdFaew130_assertion description "[A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse -sarcoglycan in the late secretory pathway.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5940.RAzYFRe_A0mHx_urKOLk00RiEM69lYiyJGZz24MbdFaew130_provenance.
• NP5941.RAyMd5PIaf1l2PQ-8qnsaOp_m9h3zH3dWtNMwjOPA536g130_assertion description "[Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5941.RAyMd5PIaf1l2PQ-8qnsaOp_m9h3zH3dWtNMwjOPA536g130_provenance.
• NP5943.RA09JfHpsXEQKcyHmKcL9kmhn1V4iYKoUCsswDQL-X0hQ130_assertion description "[Myoclonus-dystonia: clinical and genetic evaluation of a large cohort.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5943.RA09JfHpsXEQKcyHmKcL9kmhn1V4iYKoUCsswDQL-X0hQ130_provenance.
• NP5944.RA-yTbbX395bnnzrJFTbEaQSyQk4t0ZnoDbE0vcS80jFM130_assertion description "[They were linked to the LGMD2C locus (13q12) suggesting a primary defect in the gamma-SG gene coding for the 35 kDa dystrophin-associated glycoprotein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5944.RA-yTbbX395bnnzrJFTbEaQSyQk4t0ZnoDbE0vcS80jFM130_provenance.
• NP5949.RA60vy05j-TbJ9bSjNgV8fbnHeTgu7zavs9XlLoxrBl94130_assertion description "[Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5949.RA60vy05j-TbJ9bSjNgV8fbnHeTgu7zavs9XlLoxrBl94130_provenance.
• NP5952.RA-oBDHNkqosdWvJKeKeA1FOpu2uyg45Qa9aRHcL0m1k4130_assertion description "[Sanfilippo syndrome type A or mucopolysaccharidosis IIIA (MPS IIIA) is a lysosomal storage disorder caused by the deficiency of the enzyme heparin sulfamidase (EC 3.10.1.1), required for the degradation of the mucopolysaccharide heparan sulfate.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5952.RA-oBDHNkqosdWvJKeKeA1FOpu2uyg45Qa9aRHcL0m1k4130_provenance.
• NP5954.RA4lYceVO_hskkRl7pbFRgXyDrTdP9DCAaZciHIMEzlE4130_assertion description "[Gene symbol: SGSH. Disease: Sanfilippo type A syndrome, mucopolysaccharidosis IIIA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5954.RA4lYceVO_hskkRl7pbFRgXyDrTdP9DCAaZciHIMEzlE4130_provenance.
• NP5961.RA_NAV4zXkiotjjfypt_bRYJ0LkT33kE74Wl1M99SM7VU130_assertion description "[Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5961.RA_NAV4zXkiotjjfypt_bRYJ0LkT33kE74Wl1M99SM7VU130_provenance.
• NP5970.RA0XM5H8OivuvzpRpeSaRWtHSlDoD7QqHtOvWjNh5XSLg130_assertion description "[Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5970.RA0XM5H8OivuvzpRpeSaRWtHSlDoD7QqHtOvWjNh5XSLg130_provenance.
• NP5978.RA4PNtHYHIuQ1PgGl-cgJ_kZ1MCGRObL1FbNZVDo3i7Fs130_assertion description "[The impaired sorting profile to the apical membrane of human intestinal sucrase-isomaltase is the underlying cause in the pathogenesis of a novel phenotype of intestinal congenital sucrase-isomaltase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5978.RA4PNtHYHIuQ1PgGl-cgJ_kZ1MCGRObL1FbNZVDo3i7Fs130_provenance.
• NP5980.RA4sbTNssZelA2Wqz_13gn8zW1l0rTqcehZsMzqzRd1es130_assertion description "[Here we analyzed the sucrase-isomaltase (SI) gene from 11 patients of Hungarian origin with congenital sucrase-isomaltase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5980.RA4sbTNssZelA2Wqz_13gn8zW1l0rTqcehZsMzqzRd1es130_provenance.
• NP5990.RA21OnTucvsAc9K0AqYVx2xo-K3bp6p_XtjjeFEnfRi8E130_assertion description "[Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5990.RA21OnTucvsAc9K0AqYVx2xo-K3bp6p_XtjjeFEnfRi8E130_provenance.
• NP5992.RAz8eA6TUwnfx8y3ngeeNEKKnP9-28rmrYat_X1zfc8Kg130_assertion description "[These findings establish that SLC10A2 mutations can cause PBAM and underscore the ileal Na+/bile acid cotransporter's role in intestinal reclamation of bile acids.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5992.RAz8eA6TUwnfx8y3ngeeNEKKnP9-28rmrYat_X1zfc8Kg130_provenance.
• NP5997.RA-bHHH1670SXJKuOKuynVo5sLCdqckLHIia5QxOoXhjY130_assertion description "[Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5997.RA-bHHH1670SXJKuOKuynVo5sLCdqckLHIia5QxOoXhjY130_provenance.
• NP5998.RA0uNbeHXZhay3zk6GNDAvZTKs0vGEpgskqOTK01BWFt0130_assertion description "[Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in patients with Gitelman's syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5998.RA0uNbeHXZhay3zk6GNDAvZTKs0vGEpgskqOTK01BWFt0130_provenance.
• NP6003.RA0rawNCeEFeim_FLFUQRuLDKN2wyWhYJdSRl2sqoqr4Q130_assertion description "[Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6003.RA0rawNCeEFeim_FLFUQRuLDKN2wyWhYJdSRl2sqoqr4Q130_provenance.
• NP6010.RA2_MsMKetsoS9A13bGYAiF3jlmWJnC-tjY7WlQUck1BU130_assertion description "[Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6010.RA2_MsMKetsoS9A13bGYAiF3jlmWJnC-tjY7WlQUck1BU130_provenance.
• NP6011.RA2gGclVd_YKkhYe6MKyWUZqXxp6gmhXTQ36_IaD7ubI0130_assertion description "[Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6011.RA2gGclVd_YKkhYe6MKyWUZqXxp6gmhXTQ36_IaD7ubI0130_provenance.
• NP6022.RA_JESLuyVWlfK0nxQHcItz3_-OsaxTGyDOZ4df7PTTIE130_assertion description "[The findings indicate that SLC22A12 was responsible for most renal hypouricemia and that URAT1 is the primary reabsorptive urate transporter, targeted by pyrazinamide, benzbromarone, and probenecid in vivo.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6022.RA_JESLuyVWlfK0nxQHcItz3_-OsaxTGyDOZ4df7PTTIE130_provenance.
• NP6027.RA7RWwL7BU5GHT-WR7X96VhHepcd_dV2JoWlmONF1cy_4130_assertion description "[Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6027.RA7RWwL7BU5GHT-WR7X96VhHepcd_dV2JoWlmONF1cy_4130_provenance.
• NP6028.RA9EXsTswbHo__T1vydXjLNMm2jCNXhUIefHZ5TTQi_Qc130_assertion description "[Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6028.RA9EXsTswbHo__T1vydXjLNMm2jCNXhUIefHZ5TTQi_Qc130_provenance.
• NP6039.RA0qJoNERqn3uUYu_hpDK8zdxbB_JG-h-nSoNLA49GLjo130_assertion description "[Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6039.RA0qJoNERqn3uUYu_hpDK8zdxbB_JG-h-nSoNLA49GLjo130_provenance.
• NP6045.RA2lUErC2P26ix3zChg-uKnqxVEm1VK_2mt9WsfmwldDs130_assertion description "[Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6045.RA2lUErC2P26ix3zChg-uKnqxVEm1VK_2mt9WsfmwldDs130_provenance.
• NP6054.RA-CYwjAuP27rPvHcM-k4wVL8vNKdyGu0RT6VfaFyTdus130_assertion description "[Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6054.RA-CYwjAuP27rPvHcM-k4wVL8vNKdyGu0RT6VfaFyTdus130_provenance.
• NP6056.RA7K1B0E5k2cyBOuZJEaRhteuBFKjQk2ZnxKYR0ChoYN8130_assertion description "[Congenital chloride diarrhea (CLD) is an inherited intestinal disorder caused by mutations in the down-regulated in adenoma gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6056.RA7K1B0E5k2cyBOuZJEaRhteuBFKjQk2ZnxKYR0ChoYN8130_provenance.
• NP6060.RAzGAA9EkR2LibNQ3LHGkRT-wGEBp3NM0TrEcN-1oIHEM130_assertion description "[The molecular diagnosis was based on the finding of a homozygous missense D652N mutation at a position in SLC26A3 (the known congenital chloride diarrhea locus) that is virtually completely conserved in orthologues and paralogues from invertebrates to humans, and clinical follow-up confirmed the diagnosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6060.RAzGAA9EkR2LibNQ3LHGkRT-wGEBp3NM0TrEcN-1oIHEM130_provenance.
• NP6063.RAzPLt0QS2E2ZErmrTtCsnNYGkIQkDCKB9ATVCoO-RvFc130_assertion description "[Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6063.RAzPLt0QS2E2ZErmrTtCsnNYGkIQkDCKB9ATVCoO-RvFc130_provenance.
• NP6065.RAz7hl_gMcaKYTv4fEhfJd_S_9qzcgrb2PZE3c681BRu0130_assertion description "[Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6065.RAz7hl_gMcaKYTv4fEhfJd_S_9qzcgrb2PZE3c681BRu0130_provenance.
• NP6066.RA1CirS4eGkrvRpLR6NhF229FStnr_ofoGtRPMHMHrGQc130_assertion description "[Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6066.RA1CirS4eGkrvRpLR6NhF229FStnr_ofoGtRPMHMHrGQc130_provenance.
• NP6074.RA1PwWCFOZIl4Uj8h1-HrmMczTQP_vIpxJglEqa-oahLE130_assertion description "[Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6074.RA1PwWCFOZIl4Uj8h1-HrmMczTQP_vIpxJglEqa-oahLE130_provenance.
• NP6075.RAyfvA3nfnNCMl8e9iwfLKiz5dt-vYYlupFMzm1_kXQEY130_assertion description "[Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6075.RAyfvA3nfnNCMl8e9iwfLKiz5dt-vYYlupFMzm1_kXQEY130_provenance.
• NP6076.RA0XmXy7Oh05u6-MzD5L_fa_pFaQ3I0sTz6JVo-zPeYxI130_assertion description "[Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6076.RA0XmXy7Oh05u6-MzD5L_fa_pFaQ3I0sTz6JVo-zPeYxI130_provenance.

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