A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form
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VarioML framework for comprehensive variation data representation and exchangeNovel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular foldsA methodology for a minimum data set for rare diseases to support national centers of excellence for healthcare and research.Mutation extraction tools can be combined for robust recognition of genetic variants in the literatureA Python package for parsing, validating, mapping and formatting sequence variants using HGVS nomenclatureAggregate penetrance of genomic variants for actionable disorders in European and African Americans.SETH detects and normalizes genetic variants in text.
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P2860
A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form
description
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2011年の論文
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André Blavier
Jeroen F J Laros
Johan T den Dunnen
Peter E M Taschner
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P2888
P356
10.1186/1471-2105-12-S4-S5
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P478
12 Suppl 4
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2011-01-01T00:00:00Z
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1020474035