Varaico: Literature-Extracted Genetic Variants

Gene:CIB2
Variant:p.Y110*
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CIB2

NM_006383.4:p.Y110*

Associated Papers

Variants in CIB2 cause DFNB48 and not USH1J.

Booth KT et al.

Clinical Genetics, 2018

CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.

Michel V et al.

Embo Molecular Medicine, 2017

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.

Bademci G et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes.

Tekin D et al.

Hearing Research, 2016

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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."