Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.Y232*
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GJC2

NM_020435.4:p.Y232*

Associated Papers

Description of Phenotypic Heterogeneity in a GJC2-Related Family and Literature Review.

Ghasemi A et al.

Molecular Syndromology, 2023

Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction.

Diekmann S et al.

European Journal of Human Genetics : Ejhg, 2010

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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."