Article

Translational plasticity facilitates the accumulation of nonsense genetic variants in the human population

2016-02-04

Abstract excerpt

<h4>ABSTRACT</h4> Genetic variants that disrupt protein-coding DNA are ubiquitous in the human population, with ~100 such loss-of-function variants per individual. While most loss-of-function variants are rare, a subset have risen to high frequency and occur in a homozygous state in healthy individuals. It is unknown why these common variants are well-tolerated, even though some affect essential genes implicated...

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Literature Corpus work: 862f54c5-f7f5-5832-8f68-aa2c4b338520
DOI: 10.1101/038687

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