Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ4
Variant:p.G228D
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KCNQ4

NM_004700.4:p.G228D

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

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

A humanized murine model, demonstrating dominant progressive hearing loss caused by a novel KCNQ4 mutation (p.G228D) from a large Chinese family.

Cui C et al.

Clinical Genetics, 2022

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