Varaico: Literature-Extracted Genetic Variants

Gene:COCH
Variant:p.C50fs
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COCH

NM_004086.3:p.C50fs

Associated Papers

COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study.

Oh KS et al.

Human Genetics, 2022

Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.

JanssensdeVarebeke SPF et al.

European Journal of Human Genetics : Ejhg, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."