Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ4
Variant:p.G12D
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KCNQ4

NM_004700.4:p.G12D

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HPK7_het

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_A

Connexin mutations in hearing loss, dermatological and neurological disorders.

Rabionet R et al.

Trends in Molecular Medicine, 2002

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