Associated Papers
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
The Pathological Mechanisms of Hearing Loss Caused by KCNQ1 and KCNQ4 Variants.
Homma K
Biomedicines, 2022
In vivo outer hair cell gene editing ameliorates progressive hearing loss in dominant-negative Kcnq4 murine model.
Noh B et al.
Theranostics, 2022
35265220 (PubMed )
Supplement: thnov12p2465s2.xlsx › Table_S4
Rare KCNQ4 variants found in public databases underlie impaired channel activity that may contribute to hearing impairment.
Jung J et al.
Experimental & Molecular Medicine, 2019
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 and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.
Eisenberger T et al.
Human Mutation, 2014
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