Article

Human knockouts in a cohort with a high rate of consanguinity

2015-11-12

Abstract excerpt

A major goal of biomedicine is to understand the function of every gene in the human genome. Null mutations can disrupt both copies of a given gene in humans and phenotypic analysis of such 'human knockouts' can provide insight into gene function. To date, comprehensive analysis of genes knocked out in humans has been limited by the fact that null mutations are infrequent in the general population and so, observin...

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Literature Corpus work: 807f9ea3-8926-58a8-90a7-b81c92e80f5b
DOI: 10.1101/031518

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