Article

Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes

2019-10-28

Abstract excerpt

Humans homozygous or hemizygous for variants predicted to cause a loss of function of the corresponding protein do not necessarily present with overt clinical phenotypes. However, the set of effectively dispensable genes in the human genome has not yet been fully characterized. We report here 190 autosomal genes with 207 predicted loss-of-function variants, for which the frequency of homozygous individuals exceeds...

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Literature Corpus work: 538dfb62-5354-5c90-8a09-b0cee1438325
DOI: 10.1101/819615

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