Varaico: Literature-Extracted Genetic Variants

Gene:GJB5
Variant:p.D66H
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GJB5

NM_005268.4:p.D66H

Associated Papers

Connexin Mutations and Hereditary Diseases.

Qiu Y et al.

International Journal of Molecular Sciences, 2022

GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.

Iossa S et al.

Current Genomics, 2011

Key functions for gap junctions in skin and hearing.

Scott CA et al.

The Biochemical Journal, 2011

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

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

Connexins: a connection with the skin.

Richard G

Experimental Dermatology, 2000

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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."