Varaico: Literature-Extracted Genetic Variants

Gene:CLIC5
Variant:p.K21_A22Splc
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CLIC5

NM_016929.5:p.K21_A22Splc

Associated Papers

The c.644 G > A p.(Trp215*) founder variant in the CLIC5 gene causes progressive autosomal recessive deafness 103 (DFNB103) in Eastern Siberia.

Pshennikova VG et al.

Journal of Human Genetics, 2026

Identification of known and novel genetic variants in sensorineural hearing loss: insights from whole exome sequencing in Indian families.

Jagannath K et al.

Molecular Biology Reports, 2025

Leveraging human-mouse studies to advance the genetics of hearing impairment in Africa.

James K et al.

The Journal of Gene Medicine, 2024

A novel role for the chloride intracellular channel protein Clic5 in ciliary function.

Ott E et al.

Scientific Reports, 2023

Cell-based analysis of CLIC5A and SLC12A2 variants associated with hearing impairment in two African families.

Adadey SM et al.

Frontiers in Genetics, 2022

Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment.

Wonkam-Tingang E et al.

Genes, 2020

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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."