Article

Medical relevance of protein-truncating variants across 337,208 individuals in the UK Biobank study

2017-08-23

Abstract excerpt

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. We characterized the effect of 18,228 protein-truncating variants across 135 phenotypes from the UK Biobank and found 27 associations between medical phenotypes and protein-tr...

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Literature Corpus work: ceb5e400-0b3a-5e34-92ea-f49a18811fc4
DOI: 10.1101/179762

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