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VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions

The Human Genome Variation Society (HGVS) variant nomenclature is widely used to describe sequence variants in scientific publications, clinical reports, and databases. However, the HGVS recommendations are complex and this often results in inaccurate variant descriptions being reported. The open‐so...

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Bibliografische gegevens
Gepubliceerd in:Hum Mutat
Hoofdauteurs: Freeman, Peter J., Hart, Reece K., Gretton, Liam J., Brookes, Anthony J., Dalgleish, Raymond
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: John Wiley and Sons Inc. 2017
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5765404/
https://ncbi.nlm.nih.gov/pubmed/28967166
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23348
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