Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.R151S
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GJB4

NM_153212.3:p.R151S

Associated Papers

Skin disease-associated GJB4 variants differentially influence connexin stability, cell viability and channel function.

Lucaciu SA et al.

The Journal of Physiology, 2025

Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.

Adadey SM et al.

Life (basel, Switzerland), 2020

GJB4 and GJC3 variants in non-syndromic hearing impairment in Ghana.

Adadey SM et al.

Experimental Biology and Medicine (maywood, N.j.), 2020

Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.

Miller EM et al.

Oncotarget, 2017

29254223 (PubMed )
Supplement: oncotarget-08-102033-s003.xlsx › macrogen_wes.n65_t65.varscan.sn

Digenic inheritance in autosomal recessive non-syndromic hearing loss cases carrying GJB2 heterozygote mutations: assessment of GJB4, GJA1, and GJC3.

Kooshavar D et al.

International Journal of Pediatric Otorhinolaryngology, 2013

Connexin mutations in Brazilian patients with skin disorders with or without hearing loss.

Alexandrino F et al.

American Journal of Medical Genetics. Part A, 2009

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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."