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Paralogous annotation of disease-causing variants in Long QT syndrome genes

Discriminating between rare benign and pathogenic variation is a key challenge in clinical genetics, particularly as increasing numbers of non-synonymous SNPs are identified in resequencing studies. Here, we describe an approach for the functional annotation of non-synonymous variants that identifie...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Ware, James S., Walsh, Roddy, Cunningham, Fiona, Birney, Ewan, Cook, Stuart A
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4640174/
https://ncbi.nlm.nih.gov/pubmed/22581653
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22114
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