Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.H100Y
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GJC2

NM_020435.4:p.H100Y

Associated Papers

Human venous valve disease caused by mutations in FOXC2 and GJC2.

Lyons O et al.

The Journal of Experimental Medicine, 2017

28724617 (PubMed )
Supplement: JEM_20160875_sm.pdf

Understanding of the molecular evolution of deafness-associated pathogenic mutations of connexin 26.

Han XH et al.

Genetica, 2014

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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."