ClinVar: improving access to variant interpretations and supporting evidence.

ClinVar: improving access to variant interpretations and supporting evidence.

Item
http://www.wikidata.org/entity/Q47104237
The 2018 Nucleic Acids Research database issue and the online molecular biology database collection.The 2018 Nucleic Acids Research database issue and the online molecular biology database collection.Clinotator: analyzing ClinVar variation reports to prioritize reclassification efforts.The relationship between MnSOD Val16Ala gene polymorphism and the level of serum total antioxidant capacity with the risk of chronic kidney disease in type 2 diabetic patients: a nested case-control study in the Tehran lipid glucose study.Dynamics and Thermodynamics of Transthyretin Association from Molecular Dynamics Simulations.GWAS4D: multidimensional analysis of context-specific regulatory variant for human complex diseases and traits.LitVar: a semantic search engine for linking genomic variant data in PubMed and PMC.Expressed HNSCC variants by HPV-status in a well-characterized Michigan cohortUpdated recommendation for the benign stand-alone ACMG/AMP criterionThe value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variantsScaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approachClinGen's GenomeConnect registry enables patient-centered data sharingDetection of a heterozygous germline APC mutation in a three-generation family with familial adenomatous polyposis using targeted massive parallel sequencing in VietnamA moderate form of osteogenesis imperfecta caused by compound heterozygous mutationsIn-frame de novo mutation in in two patients with muscular atrophy and arthrogryposis
P2860

ClinVar: improving access to variant interpretations and supporting evidence.

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http://www.wikidata.org/entity/Q47104237
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2017 nî lūn-bûn
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2017年の論文
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2017年学术文章
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2017年学术文章
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2017年学术文章
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ClinVar: improving access to variant interpretations and supporting evidence.
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ClinVar: improving access to variant interpretations and supporting evidence.
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ClinVar: improving access to variant interpretations and supporting evidence.
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ClinVar: improving access to variant interpretations and supporting evidence.
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ClinVar: improving access to variant interpretations and supporting evidence.
@en
ClinVar: improving access to variant interpretations and supporting evidence.
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ClinVar: improving access to variant interpretations and supporting evidence.
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698
P932