Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study

Protein-truncating variants can have profound effects on gene function and are critical for clinical genome interpretation and generating therapeutic hypotheses, but their relevance to medical phenotypes has not been systematically assessed. Here, we characterize the effect of 18,228 protein-truncat...

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Detalhes bibliográficos
Publicado no:Nat Commun
Main Authors: DeBoever, Christopher, Tanigawa, Yosuke, Lindholm, Malene E., McInnes, Greg, Lavertu, Adam, Ingelsson, Erik, Chang, Chris, Ashley, Euan A., Bustamante, Carlos D., Daly, Mark J., Rivas, Manuel A.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5915386/
https://ncbi.nlm.nih.gov/pubmed/29691392
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-018-03910-9
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