Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.T182T
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GJB3

NM_024009.3:p.T182T

Associated Papers

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

A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2.

Huang B et al.

Bmc Medical Genetics, 2017

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