Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ4
Variant:p.H77fs
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KCNQ4

NM_004700.4:p.H77fs

Associated Papers

Pathogenic Mechanism of the KCNQ4 Gene Variant in Hearing Loss and Functional Validation in a Zebrafish Model.

Jia H et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025

A KCNQ4 Gene Variant (c.701A > G; p.His234Arg) in a Chinese Family With Nonsyndromic Deafness 2A.

Gong GQ et al.

Molecular Genetics & Genomic Medicine, 2025

A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2.

Huang B et al.

Bmc Medical Genetics, 2017

Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients.

Iwasa YI et al.

Plos One, 2016

Targeted high-throughput sequencing identifies pathogenic mutations in KCNQ4 in two large Chinese families with autosomal dominant hearing loss.

Wang H et al.

Plos One, 2014

Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.

Naito T et al.

Plos One, 2013

[KCNQ4 gene mutations affected a pedigree with autosomal dominant hereditary hearing loss].

Wang Q et al.

Zhonghua Er Bi Yan Hou Ke Za Zhi, 2002

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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."