Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.K15K
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GJB3

NM_024009.3:p.K15K

Associated Papers

A novel missense mutation responsible for a patient with unique erythrokeratodermia variabilis with skin lesions in a swirling pattern.

Hua S et al.

Clinical and Experimental Dermatology, 2026

A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death.

Easton JA et al.

Experimental Dermatology, 2019

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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."