Article

Homozygote loss-of-function variants in the human <i>COCH</i> gene underlie hearing loss

2020-06-30

Abstract excerpt

Since 1999, the COCH gene encoding cochlin, has been linked to the autosomal dominant non-syndromic hearing loss, DFNA9, with or without vestibular abnormalities. The hearing impairment associated with the variants affecting gene function has been attributed to a dominant-negative effect. Mutant cochlin was seen to accumulate intracellularly, with the formation of aggregates both inside and outside the cells, in...

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Literature Corpus work: 34ed3dae-1281-5cb1-8379-73e82ee1db64
DOI: 10.1101/2020.06.29.178053

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