Nanopublications LDF server

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

• NP5205.RAQemwX_7cCcuuPKWxCZ8NOEAVv8lvC7a4i4cgzSCk6aU130_assertion description "[Recently, it was shown that heterozygous point mutations in the PRKAR1A gene cause acrodysostosis with hormone resistance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5205.RAQemwX_7cCcuuPKWxCZ8NOEAVv8lvC7a4i4cgzSCk6aU130_provenance.
• NP5206.RAZ3f5xW_GpMn3s6XlZa8BtJyqOX2-ycjZ-sLaZn0ufR0130_assertion description "[The results indicate that acrodysostosis with hormone resistance is caused by a heterozygous mutation at the cAMP-binding domain A of PRKAR1A because of impaired cAMP-mediated GPCR signaling.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5206.RAZ3f5xW_GpMn3s6XlZa8BtJyqOX2-ycjZ-sLaZn0ufR0130_provenance.
• NP5207.RAfKHcHiXYSyJI0qO0qnqHRf-YvwXjxX9QsMsuuDQOX3Y130_assertion description "[PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5207.RAfKHcHiXYSyJI0qO0qnqHRf-YvwXjxX9QsMsuuDQOX3Y130_provenance.
• NP5212.RAegWVD0SF8hNfhqVlswvYbD5PUAqzva97Kjoasv1Uhjk130_assertion description "[A variant of Gerstmann-Strussler-Scheinker disease carrying codon 105 mutation with codon 129 polymorphism of the prion protein gene: a clinicopathological study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5212.RAegWVD0SF8hNfhqVlswvYbD5PUAqzva97Kjoasv1Uhjk130_provenance.
• NP5225.RAbONnAfqfvCemoMqAtjzZx2pnp9hJj9DV13R8GtH57pg130_assertion description "[Two novel (R(-11)C; T394D) and two repeat missense mutations in the protein C gene associated with venous thrombosis in six kindreds.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5225.RAbONnAfqfvCemoMqAtjzZx2pnp9hJj9DV13R8GtH57pg130_provenance.
• NP5228.RAdXh2d8aVSKE6y9ojfsL0MQFparKVMiLt7mtjAWaH-GM130_assertion description "[Genetic mutations in ten unrelated American patients with symptomatic type 1 protein C deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5228.RAdXh2d8aVSKE6y9ojfsL0MQFparKVMiLt7mtjAWaH-GM130_provenance.
• NP5231.RAQhAeCFP63r3tVRlji55qPVKf3hmfh_LGLrZLxcbOeuE130_assertion description "[The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5231.RAQhAeCFP63r3tVRlji55qPVKf3hmfh_LGLrZLxcbOeuE130_provenance.
• NP5234.RATlsUrKZXAQOxiYjoEZYimfWfyhyGVxiLNzIKPbfwGGM130_assertion description "[Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5234.RATlsUrKZXAQOxiYjoEZYimfWfyhyGVxiLNzIKPbfwGGM130_provenance.
• NP5236.RAXd2o8SwFGbAAIMX0y6dmhoFhgam1tz9UhRFgZuBUGZc130_assertion description "[A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5236.RAXd2o8SwFGbAAIMX0y6dmhoFhgam1tz9UhRFgZuBUGZc130_provenance.
• NP5250.RAVPeFIn_B2dxtf3F0gcLp6zJJdAHo9A6tXKe3tu67_rs130_assertion description "[Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5250.RAVPeFIn_B2dxtf3F0gcLp6zJJdAHo9A6tXKe3tu67_rs130_provenance.
• NP5259.RARU_ovE9-1f26m4F5rlEj5QUHi_ro9c8g6LaO86u4QOM130_assertion description "[Protein S Gla-domain mutations causing impaired Ca(2+)-induced phospholipid binding and severe functional protein S deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5259.RARU_ovE9-1f26m4F5rlEj5QUHi_ro9c8g6LaO86u4QOM130_provenance.
• NP5262.RAWD5IJqQa3-7fqqFm2jAES071t4Cx0Ka0OWO87yNlKHU130_assertion description "[Genetic analysis, phenotypic diagnosis, and risk of venous thrombosis in families with inherited deficiencies of protein S.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5262.RAWD5IJqQa3-7fqqFm2jAES071t4Cx0Ka0OWO87yNlKHU130_provenance.
• NP5263.RAQzXZZhDVn4_MqT7xJTlxkgA1aB-ZYDM7EOeVbAEGN-M130_assertion description "[Intracerebral mass bleeding in a term neonate: manifestation of hereditary protein S deficiency with a new mutation in the PROS1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5263.RAQzXZZhDVn4_MqT7xJTlxkgA1aB-ZYDM7EOeVbAEGN-M130_provenance.
• NP5265.RAfHleOmWmsnVVEk71nDaoTv44EIYc5VGhIm6sf0PYEsU130_assertion description "[Our findings provide new insights into the biology of Hprp3p and suggest that the loss of Hprp3p phosphorylation at Thr494 is a key step for initiating Thr494Met aberrant interactions within U4/U6 snRNP complex and that these are likely linked to the RP18 phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5265.RAfHleOmWmsnVVEk71nDaoTv44EIYc5VGhIm6sf0PYEsU130_provenance.
• NP5272.RASlExz5GBFi9Gn1VWHSVZiqL3hOEQMfQrKEFFfnEWDqw130_assertion description "[Next-generation genetic testing for retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5272.RASlExz5GBFi9Gn1VWHSVZiqL3hOEQMfQrKEFFfnEWDqw130_provenance.
• NP5273.RAd5UuymcEyw0oXQpjSGE5GQSMQubu-r6c3FWIPMhxWso130_assertion description "[Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5273.RAd5UuymcEyw0oXQpjSGE5GQSMQubu-r6c3FWIPMhxWso130_provenance.
• NP5289.RAQ5ylP-ELnGYKsUF7mCG-h-x0xjMqUvFG1VrtjeIAxoc130_assertion description "[Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5289.RAQ5ylP-ELnGYKsUF7mCG-h-x0xjMqUvFG1VrtjeIAxoc130_provenance.
• NP5292.RAeJHF1LlIuigvg7FlewSnIGDJ_Wf80RZ14fUqksDoQmE130_assertion description "[PRRT2 mutations are the major cause of benign familial infantile seizures.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5292.RAeJHF1LlIuigvg7FlewSnIGDJ_Wf80RZ14fUqksDoQmE130_provenance.
• NP5297.RAU-hzm43cCXWHapdmhXed4ILWYz86etpMlPnsKQluZwQ130_assertion description "[Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5297.RAU-hzm43cCXWHapdmhXed4ILWYz86etpMlPnsKQluZwQ130_provenance.
• NP5299.RAWCNqFo-gq5LmPvQ2A11ILyuUDtdFdcLLZjbYl0C9CVQ130_assertion description "[A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5299.RAWCNqFo-gq5LmPvQ2A11ILyuUDtdFdcLLZjbYl0C9CVQ130_provenance.
• NP5306.RAVPS0eTGgJsrPZjFFcQz3Cuky0Db_v7U5Wz_486kw9ZU130_assertion description "[Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5306.RAVPS0eTGgJsrPZjFFcQz3Cuky0Db_v7U5Wz_486kw9ZU130_provenance.
• NP5307.RAQ041HZEG0jq7_bVUT6TeVxtE9I5cWGJ0aqxT3uQzqso130_assertion description "[A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5307.RAQ041HZEG0jq7_bVUT6TeVxtE9I5cWGJ0aqxT3uQzqso130_provenance.
• NP5312.RASE1aFlSfX8om81PVmSbSTE9FaVU2PfM4cftCwa4hbwM130_assertion description "[Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5312.RASE1aFlSfX8om81PVmSbSTE9FaVU2PfM4cftCwa4hbwM130_provenance.
• NP5314.RAdNVAZrDj7073aSMbjbsrf-vZAv_QOgS1dOuVH1s30jM130_assertion description "[A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5314.RAdNVAZrDj7073aSMbjbsrf-vZAv_QOgS1dOuVH1s30jM130_provenance.
• NP5315.RAe0jCXUJuWRwx4jfkm3yW3mF4pFM5aZEfbx6SVyKhcBk130_assertion description "[Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Abeta 42 production.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5315.RAe0jCXUJuWRwx4jfkm3yW3mF4pFM5aZEfbx6SVyKhcBk130_provenance.
• NP5319.RAdoFReGzqsNWo-fIeEvTgtCE2fDdsDKvIjlpEdgpELtE130_assertion description "[High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5319.RAdoFReGzqsNWo-fIeEvTgtCE2fDdsDKvIjlpEdgpELtE130_provenance.
• NP5321.RAWrwgUCGJVUovbi_nRX9IsP29h2FiIjtRFxX0U2_BQQk130_assertion description "[The presenilin 1 C92S mutation increases abeta 42 production.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5321.RAWrwgUCGJVUovbi_nRX9IsP29h2FiIjtRFxX0U2_BQQk130_provenance.
• NP5338.RAegFU-vrm1VIEBcA1RakI7jc7Bwjjb603L--jmEMOWkM130_assertion description "[Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5338.RAegFU-vrm1VIEBcA1RakI7jc7Bwjjb603L--jmEMOWkM130_provenance.
• NP5346.RAXv8SP8h8kjweu5ljRea5TB9hXxoxHAKMBtTcjn_yqwc130_assertion description "[Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5346.RAXv8SP8h8kjweu5ljRea5TB9hXxoxHAKMBtTcjn_yqwc130_provenance.
• NP5356.RAY69LTg9RAI_rwc4xf4WqcxYjXxsTx1gk0IMm2_vQS1o130_assertion description "[Detection of new PTEN/MMAC1 mutations in head and neck squamous cell carcinomas with loss of chromosome 10.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5356.RAY69LTg9RAI_rwc4xf4WqcxYjXxsTx1gk0IMm2_vQS1o130_provenance.
• NP5360.RARI1RPN9T9iUpVb82H1RDgKB6YXwEaWKUz3GzLluKyaM130_assertion description "[A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5360.RARI1RPN9T9iUpVb82H1RDgKB6YXwEaWKUz3GzLluKyaM130_provenance.
• NP5365.RAfEawlNGfYRt0QFv-2rOoj7NoxIA3eOOTiio2atqC8m0130_assertion description "[Autosomal dominant familial isolated hypoparathyroidism (AD-FIH) is caused by a Cys --> Arg mutation (C18R) in the hydrophobic core of the signal peptide of human preproparathyroid hormone (PPTH).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5365.RAfEawlNGfYRt0QFv-2rOoj7NoxIA3eOOTiio2atqC8m0130_provenance.
• NP5375.RAYIv-D0RkTvx8ElhjBOCwUi_k_l7t-tM8UozBlwQBMr4130_assertion description "[We studied a female patient with typical findings of NFNS and found two mutations: a novel PTPN11 transversion, 1909A --> G, resulting in Gln510Arg, and an NF1 transversion, 2531A --> G, resulting in Leu844Arg.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5375.RAYIv-D0RkTvx8ElhjBOCwUi_k_l7t-tM8UozBlwQBMr4130_provenance.
• NP5376.RAYJxtymXbGQ7ezYb0aE2NF4hCVz6_Vn0X7-UK2aKs0nc130_assertion description "[PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5376.RAYJxtymXbGQ7ezYb0aE2NF4hCVz6_Vn0X7-UK2aKs0nc130_provenance.
• NP5378.RAbCjD4hZcN985jKcY_IJJdn9ADnwprIqf6-9_dUen_Pc130_assertion description "[Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5378.RAbCjD4hZcN985jKcY_IJJdn9ADnwprIqf6-9_dUen_Pc130_provenance.
• NP5381.RAZooXvjfPys-jcu6A1mAvG9P8pal5-uS3Lm98NcynxfA130_assertion description "[PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5381.RAZooXvjfPys-jcu6A1mAvG9P8pal5-uS3Lm98NcynxfA130_provenance.
• NP5385.RAfuBicCH3J3bUQikmZx_TayiBlrzazeyfH3KCYT6ZU_s130_assertion description "[Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5385.RAfuBicCH3J3bUQikmZx_TayiBlrzazeyfH3KCYT6ZU_s130_provenance.
• NP5391.RASjPT53KIm0IRaRAsKnpEMhus_OoJoiQat1ksWgR-HF0130_assertion description "[Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5391.RASjPT53KIm0IRaRAsKnpEMhus_OoJoiQat1ksWgR-HF0130_provenance.
• NP5393.RAYbW1WY-WCtqj_nkg3k1bmYTeD7ljMStbZNPEI9TlKk8130_assertion description "[Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5393.RAYbW1WY-WCtqj_nkg3k1bmYTeD7ljMStbZNPEI9TlKk8130_provenance.
• NP5396.RARXRIP-G6Lqvl9im3EjgOhsci9UhzJyGk5FbOnbBamC0130_assertion description "[Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5396.RARXRIP-G6Lqvl9im3EjgOhsci9UhzJyGk5FbOnbBamC0130_provenance.
• NP5400.RAcR0nklVt8cQFYE2vmfidqDizbAmtWZUL_nhqrmfgHEU130_assertion description "[Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5400.RAcR0nklVt8cQFYE2vmfidqDizbAmtWZUL_nhqrmfgHEU130_provenance.
• NP5409.RAaGy623k2MvS22_VNSsSWlrmcKEAAASlkCD54RTLQQWs130_assertion description "[Loss-of-function mutations in RAB18 cause Warburg micro syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5409.RAaGy623k2MvS22_VNSsSWlrmcKEAAASlkCD54RTLQQWs130_provenance.
• NP5411.RAYxHdBURabCsXat02acF2u5ARMCP1anMWsjE8qyF2JDU130_assertion description "[Here, we describe a further 8 independent families comprising 10 affected individuals with Carpenter syndrome, who were positive for mutations in RAB23.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5411.RAYxHdBURabCsXat02acF2u5ARMCP1anMWsjE8qyF2JDU130_provenance.
• NP5419.RAX9vyEmK-8xuo8t2bwvOSCdDvVFcxTULeSNEv2gpozvs130_assertion description "[Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5419.RAX9vyEmK-8xuo8t2bwvOSCdDvVFcxTULeSNEv2gpozvs130_provenance.
• NP5421.RAVLG17UZ4XSkZUPFYS7t9Vwvr5dp6-xZlJndLkeaN60g130_assertion description "[Mutation of the RAD51C gene in a Fanconi anemia-like disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5421.RAVLG17UZ4XSkZUPFYS7t9Vwvr5dp6-xZlJndLkeaN60g130_provenance.
• NP5425.RAQPAI5F5itgGE-BZiXXIgUnShnjzFqmoCsL1jGbpVlUw130_assertion description "[Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5425.RAQPAI5F5itgGE-BZiXXIgUnShnjzFqmoCsL1jGbpVlUw130_provenance.
• NP5434.RAWA3wDt8VJFlOH4X-vUo65_3P4qxpl97I23aRdLKjUEo130_assertion description "[An immunodeficiency disease with RAG mutations and granulomas.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5434.RAWA3wDt8VJFlOH4X-vUo65_3P4qxpl97I23aRdLKjUEo130_provenance.
• NP5436.RAWNW5w75rAr3la-sFE2KFSNU0dQs0HauY6DT7SlcSTPc130_assertion description "[Partial V(D)J recombination activity leads to Omenn syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5436.RAWNW5w75rAr3la-sFE2KFSNU0dQs0HauY6DT7SlcSTPc130_provenance.
• NP5437.RASpdmeicStH6sNWATJnpEbuNakxKMWVxF0AxOl7XYd3c130_assertion description "[An immunodeficiency disease with RAG mutations and granulomas.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5437.RASpdmeicStH6sNWATJnpEbuNakxKMWVxF0AxOl7XYd3c130_provenance.
• NP5439.RAU9AukRX-vzRPN57oMd9mxu8zCu54nGZ8HIOzRWdB-V8130_assertion description "[Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5439.RAU9AukRX-vzRPN57oMd9mxu8zCu54nGZ8HIOzRWdB-V8130_provenance.
• NP5442.RASYZapA4e2ZXt39Dgu6S0NdN6AOKjLtklC6GeLcti9yg130_assertion description "[Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5442.RASYZapA4e2ZXt39Dgu6S0NdN6AOKjLtklC6GeLcti9yg130_provenance.
• NP5443.RAbpaHQFr3Jvq_qQGHReMCNOWE2lDcYvmfVzYppAGaaKo130_assertion description "[Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5443.RAbpaHQFr3Jvq_qQGHReMCNOWE2lDcYvmfVzYppAGaaKo130_provenance.
• NP5445.RAQ9HUFZsO_u014Wrxpplxhm11YiYd1yIRN6-hoKzQv18130_assertion description "[QRX, a novel homeobox gene, modulates photoreceptor gene expression.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5445.RAQ9HUFZsO_u014Wrxpplxhm11YiYd1yIRN6-hoKzQv18130_provenance.
• NP5449.RAXl4yqt0LcyNMUr1-3UciqtDzyECK9bVlAiHMVWBRsGU130_assertion description "[Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5449.RAXl4yqt0LcyNMUr1-3UciqtDzyECK9bVlAiHMVWBRsGU130_provenance.
• NP5451.RAa0xtsdOJ_gZ251O9LRkGr88ETTn8OrV3pLodawC8kC0130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5451.RAa0xtsdOJ_gZ251O9LRkGr88ETTn8OrV3pLodawC8kC0130_provenance.
• NP5453.RAXn7KOxEZEOCWpxdsJRIHEcyOAoMYBnMxsbtf-5BHiM4130_assertion description "[Twelve novel RB1 gene mutations in patients with hereditary retinoblastoma. Mutations in brief no. 206. Online.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5453.RAXn7KOxEZEOCWpxdsJRIHEcyOAoMYBnMxsbtf-5BHiM4130_provenance.
• NP5456.RAY48QfpkH9Wkq5OVGozgLDd8dBOEARl0sM5bMonfqZV0130_assertion description "[Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5456.RAY48QfpkH9Wkq5OVGozgLDd8dBOEARl0sM5bMonfqZV0130_provenance.
• NP5458.RASUW2pAgCSBlEL6R0Q5yBor_ubp9tR4mODE6bjf5BilY130_assertion description "[Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5458.RASUW2pAgCSBlEL6R0Q5yBor_ubp9tR4mODE6bjf5BilY130_provenance.
• NP5468.RAQVzDO4XdPfgb8IshbVaoiEUShne8--n-yh6Y38HVP3k130_assertion description "[Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5468.RAQVzDO4XdPfgb8IshbVaoiEUShne8--n-yh6Y38HVP3k130_provenance.
• NP5469.RAZ-VtUF97VXRn-7Scyh4xuEFSmcddV4TnWmqIqK2jdQQ130_assertion description "[Fundus albipunctatus either with or without cone dystrophy is caused by mutations of the RDH5 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5469.RAZ-VtUF97VXRn-7Scyh4xuEFSmcddV4TnWmqIqK2jdQQ130_provenance.
• NP5475.RARRMTIbWmNtht_HSGWmS0MeBHvxVOlOxZ8YMr2Pm0w0k130_assertion description "[Mutations in the gene encoding 11-cis-retinol dehydrogenase (RDH5; EC ) are associated with fundus albipunctatus, an autosomal recessive eye disease characterized by stationary night blindness and accumulation of white spots in the retina.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5475.RARRMTIbWmNtht_HSGWmS0MeBHvxVOlOxZ8YMr2Pm0w0k130_provenance.
• NP5477.RAYinCcPajGDzTpaslpZ1vVsZgNsNCdkSbRxrdtcmg4nk130_assertion description "[Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5477.RAYinCcPajGDzTpaslpZ1vVsZgNsNCdkSbRxrdtcmg4nk130_provenance.
• NP5478.RAf1ggNWjSaKwk_0QO6fvFMvs4YKiFMJCkXICaEQIAmac130_assertion description "[Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5478.RAf1ggNWjSaKwk_0QO6fvFMvs4YKiFMJCkXICaEQIAmac130_provenance.
• NP5482.RAcLCr1GsyJXU6-1SuNiZus9tizVNgcb14qBU-YKrOTu0130_assertion description "[RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5482.RAcLCr1GsyJXU6-1SuNiZus9tizVNgcb14qBU-YKrOTu0130_provenance.
• NP5492.RAbOv9qLxHhckU_jxs4RVj0esifHa12ryCFYAmVP1bkdo130_assertion description "[Renal aplasia in humans is associated with RET mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5492.RAbOv9qLxHhckU_jxs4RVj0esifHa12ryCFYAmVP1bkdo130_provenance.
• NP5496.RAe_woFGFmvKBqGZ1bhvtjMu2wz1G-AfhSAWPUQ-eeVpA130_assertion description "[A RET double mutation in the germline of a kindred with FMTC.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5496.RAe_woFGFmvKBqGZ1bhvtjMu2wz1G-AfhSAWPUQ-eeVpA130_provenance.
• NP5508.RAaw_Msgzzvf0iEAZNvzQc8dq0dF2sARM_z3BjGbbr8CM130_assertion description "[Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5508.RAaw_Msgzzvf0iEAZNvzQc8dq0dF2sARM_z3BjGbbr8CM130_provenance.
• NP5514.RASHXM2K-yIdq6tPaaFXAYrZnAZizpDUBtLLgQr7OVlg8130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5514.RASHXM2K-yIdq6tPaaFXAYrZnAZizpDUBtLLgQr7OVlg8130_provenance.
• NP5516.RAZN9IWxSx0ThChXl-w8VfoD6NQaRyLH7Ti4aI6kjahQM130_assertion description "[Renal aplasia in humans is associated with RET mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5516.RAZN9IWxSx0ThChXl-w8VfoD6NQaRyLH7Ti4aI6kjahQM130_provenance.
• NP5517.RAQZcKt3s2q_dJdo0rYIKCwhD1VqREcDsVy3X2UdiAIHU130_assertion description "[Molecular analysis of congenital central hypoventilation syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5517.RAQZcKt3s2q_dJdo0rYIKCwhD1VqREcDsVy3X2UdiAIHU130_provenance.
• NP5521.RAXRK63L6VmkIN0HfcM2PszaZa6qmM_Pgzkc_LP_g3q4E130_assertion description "[Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5521.RAXRK63L6VmkIN0HfcM2PszaZa6qmM_Pgzkc_LP_g3q4E130_provenance.
• NP5522.RAXperbcZCO1qjHj8R1M5_o2-7z456zKNjGfQTfvepuQg130_assertion description "[Rfx6 directs islet formation and insulin production in mice and humans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5522.RAXperbcZCO1qjHj8R1M5_o2-7z456zKNjGfQTfvepuQg130_provenance.
• NP5525.RARpIxl8Qr6rY6Po-IKiii7U5up5CuAn-qGSQ9PMObuQU130_assertion description "[Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5525.RARpIxl8Qr6rY6Po-IKiii7U5up5CuAn-qGSQ9PMObuQU130_provenance.
• NP5526.RAWa9RfuYVBriuD6ojVEx3dsUzKJJT339aMratgBhMmsI130_assertion description "[Candidate gene acting as a suppressor of the RH locus in most cases of Rh-deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5526.RAWa9RfuYVBriuD6ojVEx3dsUzKJJT339aMratgBhMmsI130_provenance.
• NP5532.RAekKMh14jUfwi5yd2x0RVtjs_5gDJCGLflJ5tRs0wJSo130_assertion description "[A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5532.RAekKMh14jUfwi5yd2x0RVtjs_5gDJCGLflJ5tRs0wJSo130_provenance.
• NP5533.RAQQd-oVZR19TRufz0L6EAAkQKvEFZ2NBBar-6dYusPE0130_assertion description "[Rhodopsin mutation G109R in a family with autosomal dominant retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5533.RAQQd-oVZR19TRufz0L6EAAkQKvEFZ2NBBar-6dYusPE0130_provenance.
• NP5535.RAXbwzwmMPH5UG0qg_NSBrdVQ1hmbXJ2yDgdqleY6xPaQ130_assertion description "[Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5535.RAXbwzwmMPH5UG0qg_NSBrdVQ1hmbXJ2yDgdqleY6xPaQ130_provenance.
• NP5540.RAQROdoLLn_QLYEjALih9mX8kySpC3uct1hR6qMmVYyZc130_assertion description "[Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5540.RAQROdoLLn_QLYEjALih9mX8kySpC3uct1hR6qMmVYyZc130_provenance.
• NP5542.RAa4JoaEyen9pNZ0loOWqNJdn1VlICmhI7jlFaPPPXePQ130_assertion description "[Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5542.RAa4JoaEyen9pNZ0loOWqNJdn1VlICmhI7jlFaPPPXePQ130_provenance.
• NP5548.RAQ2UWPhYUJO-p3_4t8ZviePZ86nMsRDD3a-ExlZR-cjQ130_assertion description "[Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutires syndrome and mimic congenital viral brain infection.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5548.RAQ2UWPhYUJO-p3_4t8ZviePZ86nMsRDD3a-ExlZR-cjQ130_provenance.
• NP5550.RAb5lJqJpAS1Z8Gup18WV_odEuvd23qk3gXemC83S7K5A130_assertion description "[Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutires syndrome and mimic congenital viral brain infection.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5550.RAb5lJqJpAS1Z8Gup18WV_odEuvd23qk3gXemC83S7K5A130_provenance.
• NP5557.RARH0P7f3ps4lwGAoc4UB8AhpbUct-lFnAnbGyTBfY6Pg130_assertion description "[The nature of these mutations suggests that RRS is caused by loss of ROR2 activity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5557.RARH0P7f3ps4lwGAoc4UB8AhpbUct-lFnAnbGyTBfY6Pg130_provenance.
• NP5561.RAaUpeucidXY4kAxACqya4B3SvfwrdaR5lFdyvym50JHM130_assertion description "[Molecular characterization of retinitis pigmentosa in Saudi Arabia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5561.RAaUpeucidXY4kAxACqya4B3SvfwrdaR5lFdyvym50JHM130_provenance.
• NP5562.RAULFhpZpTsfoIa0zoquiHxSCwYJG8Pqz4q79iIkirm0Y130_assertion description "[Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5562.RAULFhpZpTsfoIa0zoquiHxSCwYJG8Pqz4q79iIkirm0Y130_provenance.
• NP5567.RAbnZXMGwcuI0rNWQHRGfvjCsOTqDwEWBKqEcFUPQAS_0130_assertion description "[Next-generation genetic testing for retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5567.RAbnZXMGwcuI0rNWQHRGfvjCsOTqDwEWBKqEcFUPQAS_0130_provenance.
• NP5571.RAU6j5YkUaCg1G96B1Y1I8h-PyWUKZS8K0lWDXuAPzwcc130_assertion description "[A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5571.RAU6j5YkUaCg1G96B1Y1I8h-PyWUKZS8K0lWDXuAPzwcc130_provenance.
• NP5573.RAYTBakDyfJxEwZIMVCbdc7AHv-8EUKzpvblnyoYg3dEw130_assertion description "[Evidence that such mutations are different from the 21 RP2 mutations described thus far suggests that a high mutation rate occurs at the RP2 locus, and that most mutations arise independently, without a founder effect.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5573.RAYTBakDyfJxEwZIMVCbdc7AHv-8EUKzpvblnyoYg3dEw130_provenance.
• NP5574.RAWHfnbr63M3X0cUp1Z4IwW9tXOVqRPNAVnV57p__VL8w130_assertion description "[Next-generation genetic testing for retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5574.RAWHfnbr63M3X0cUp1Z4IwW9tXOVqRPNAVnV57p__VL8w130_provenance.
• NP5578.RAd5-ZzMGftrU3-7f5cDwu9XB7aQLzTxGxC6d2lQNEQSM130_assertion description "[Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5578.RAd5-ZzMGftrU3-7f5cDwu9XB7aQLzTxGxC6d2lQNEQSM130_provenance.
• NP5582.RAT_tJyFKbpqsY0vJS9LOIlSmrLCL-gUJupq0QP3KwLD0130_assertion description "[Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5582.RAT_tJyFKbpqsY0vJS9LOIlSmrLCL-gUJupq0QP3KwLD0130_provenance.
• NP5586.RAUjKbdo_jxf4S_oD-pBUyQsiIEsyER8KO0zhe7-Qn2aQ130_assertion description "[Next-generation genetic testing for retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5586.RAUjKbdo_jxf4S_oD-pBUyQsiIEsyER8KO0zhe7-Qn2aQ130_provenance.
• NP5590.RATnYecr3zp7xA3c8PtllwAsiMjODBikusvpqs8Vvaro8130_assertion description "[Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5590.RATnYecr3zp7xA3c8PtllwAsiMjODBikusvpqs8Vvaro8130_provenance.
• NP5592.RATLflj7s-uEnscsnuUbl1FQksuWDocuPfee0LVu90qqg130_assertion description "[Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5592.RATLflj7s-uEnscsnuUbl1FQksuWDocuPfee0LVu90qqg130_provenance.
• NP5593.RAVXVLktr6xZup-I3xNLJdvTX1dYj3c_XXXY1h_bhCsR4130_assertion description "[The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5593.RAVXVLktr6xZup-I3xNLJdvTX1dYj3c_XXXY1h_bhCsR4130_provenance.
• NP5594.RAcFv-dtvZ0eodaqWXL8Ft8qJF6RM-QTR0lCqd7EsJ4Ws130_assertion description "[Molecular characterization of Joubert syndrome in Saudi Arabia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5594.RAcFv-dtvZ0eodaqWXL8Ft8qJF6RM-QTR0lCqd7EsJ4Ws130_provenance.
• NP5595.RAWZEukIwwnOKu6OLyxExb0hSO_qvqqAw_9o_0_vGAGlE130_assertion description "[Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5595.RAWZEukIwwnOKu6OLyxExb0hSO_qvqqAw_9o_0_vGAGlE130_provenance.
• NP5596.RAdAagzPtn3ZsvshwLWeoIh8vnSAhu-6SvlQAj2AiqpTo130_assertion description "[A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5596.RAdAagzPtn3ZsvshwLWeoIh8vnSAhu-6SvlQAj2AiqpTo130_provenance.
• NP5597.RAfQoVn0-wc6wYeCB43wfm0442IvyzWvVv8Z4X_mrIrbM130_assertion description "[Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5597.RAfQoVn0-wc6wYeCB43wfm0442IvyzWvVv8Z4X_mrIrbM130_provenance.
• NP5599.RAYNl9h0ke7Oepr5zT2hm88VZw4u-clFT6gL6Z8NhHSQQ130_assertion description "[Molecular characterization of Leber congenital amaurosis in Koreans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5599.RAYNl9h0ke7Oepr5zT2hm88VZw4u-clFT6gL6Z8NhHSQQ130_provenance.
• NP5600.RAfOS3udUfLM8sZDU0EqDRWTqkvMj6PDPnO08JpK7Zm64130_assertion description "[Recently, the retinitis pigmentosa 3 (RP3) gene has been cloned and named retinitis pigmentosa GTPase regulator (RPGR).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5600.RAfOS3udUfLM8sZDU0EqDRWTqkvMj6PDPnO08JpK7Zm64130_provenance.

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