Varaico: Literature-Extracted Genetic Variants

Gene:CABP2
Variant:p.E163_F164Splc
Back to variants list

CABP2

NM_016366.3:p.E163_F164Splc

Associated Papers

First reported CABP2-related non-syndromic hearing loss in Northern Europe.

Sheyanth IN et al.

Molecular Genetics & Genomic Medicine, 2021

A Novel Pathogenic Variant in the CABP2 Gene Causes Severe Nonsyndromic Hearing Loss in a Consanguineous Iranian Family.

Koohiyan M et al.

Audiology & Neuro-otology, 2019

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."