Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ4
Variant:p.W275S
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KCNQ4

NM_004700.4:p.W275S

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

The Pathological Mechanisms of Hearing Loss Caused by KCNQ1 and KCNQ4 Variants.

Homma K

Biomedicines, 2022

Proactive functional classification of all possible missense single-nucleotide variants in KCNQ4.

Zheng H et al.

Genome Research, 2022

35760561 (PubMed )
Supplement: supp_gr.276562.122_Supplemental_Dataset.xlsx › Supplemental_Dataset_C

Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss.

Jung J et al.

Scientific Reports, 2018

30413759 (PubMed )
Supplement: 41598_2018_34876_MOESM1_ESM.pdf

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

[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."