Varaico: Literature-Extracted Genetic Variants

Gene:GJD2
Variant:p.L7V
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GJD2

NM_020660.3:p.L7V

Associated Papers

Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?

De Bock M et al.

Frontiers in Pharmacology, 2013

Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia.

Shao Q et al.

Molecular Biology of the Cell, 2012

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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."