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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5915386/
https://www.ncbi.nlm.nih.gov/pubmed/29691392
http://dx.doi.org/10.1038/s41467-018-03910-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5915386/
https://www.ncbi.nlm.nih.gov/pubmed/29691392
http://dx.doi.org/10.1038/s41467-018-03910-9

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