Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.V95V
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GJB3

NM_024009.3:p.V95V

Associated Papers

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

Indispensable Role of Ion Channels and Transporters in the Auditory System.

Mittal R et al.

Journal of Cellular Physiology, 2017

Genetics of hearing loss: focus on DFNA2.

Dominguez LM et al.

The Application of Clinical Genetics, 2012

KCNQ4 mutations associated with nonsyndromic progressive sensorineural hearing loss.

Nie L

Current Opinion in Otolaryngology & Head and Neck Surgery, 2008

Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S).

Topsakal V et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2005

Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.

Van Hauwe P et al.

American Journal of Medical Genetics, 2000

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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."