Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.N14S
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GJB6

NM_001110219.3:p.N14S

Associated Papers

Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation.

Murshidi R et al.

Case Reports in Dermatological Medicine, 2023

GJB6 mutation A88V for hidrotic ectodermal dysplasia in a Chinese family.

Shi X et al.

International Journal of Dermatology, 2019

Mechanistic effect of the human GJB6 gene and its mutations in HaCaT cell proliferation and apoptosis.

Lu Y et al.

Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2018

A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia.

Yang R et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2016

Novel mutations in GJB6 and GJB2 in Clouston syndrome.

Liu YT et al.

Clinical and Experimental Dermatology, 2015

Mutation-Proved Clouston Syndrome in a Large Indian Family with a Variant Phenotype.

Khatter S et al.

Indian Journal of Dermatology, 0

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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."