Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.W44C
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GJB3

NM_024009.3:p.W44C

Associated Papers

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

Han XH et al.

Genetica, 2014

Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.

Bazazzadegan N et al.

American Journal of Medical Genetics. Part A, 2011

Gap-junction channels dysfunction in deafness and hearing loss.

Martínez AD et al.

Antioxidants & Redox Signaling, 2009

trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation.

Rouan F et al.

Journal of Cell Science, 2001

Molecular genetics of hearing loss.

Petit C et al.

Annual Review of Genetics, 2001

Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss.

Cohn ES et al.

American Journal of Medical Genetics, 1999

Autosomal dominant nonsyndromic hearing impairment.

Van Laer L et al.

American Journal of Medical Genetics, 1999

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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."