Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.D50N
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GJB4

NM_153212.3:p.D50N

Associated Papers

Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.

Ray M et al.

Journal of Pediatric Genetics, 2022

From Hyperactive Connexin26 Hemichannels to Impairments in Epidermal Calcium Gradient and Permeability Barrier in the Keratitis-Ichthyosis-Deafness Syndrome.

García IE et al.

The Journal of Investigative Dermatology, 2016

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

Iossa S et al.

Current Genomics, 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

Life cycle of connexins in health and disease.

Laird DW

The Biochemical Journal, 2006

Gap junction diseases of the skin.

van Steensel MA

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2004

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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."