Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.W77R
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GJB3

NM_024009.3:p.W77R

Associated Papers

Understanding of the molecular evolution of deafness-associated pathogenic mutations of connexin 26.

Han XH et al.

Genetica, 2014

Gap-junction channels dysfunction in deafness and hearing loss.

Martínez AD et al.

Antioxidants & Redox Signaling, 2009

Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness.

Bruzzone R et al.

Febs Letters, 2003

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.

Rabionet R et al.

Human Mutation, 2000

Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness.

Martin PE et al.

Human Molecular Genetics, 1999

Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.

Richard G et al.

Human Genetics, 1998

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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."