Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.M1V
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GJB3

NM_024009.3:p.M1V

Associated Papers

Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.

Ray M et al.

Journal of Pediatric Genetics, 2022

Gap junctions and connexins in the inner ear: their roles in homeostasis and deafness.

Nickel R et al.

Current Opinion in Otolaryngology & Head and Neck Surgery, 2008

Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.

Thönnissen E et al.

Human Genetics, 2002

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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."