Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.C169Y
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GJB6

NM_001110219.3:p.C169Y

Associated Papers

Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss.

Maslova EA et al.

Biomolecules, 2021

33466560 (PubMed )
Supplement: biomolecules-11-00061-s001.pdf

GJB2 and GJB6 genes and the A1555G mitochondrial mutation are only minor causes of nonsyndromic hearing loss in the Qatari population.

Khalifa Alkowari M et al.

International Journal of Audiology, 2012

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