Varaico: Literature-Extracted Genetic Variants

Gene:GJA4
Variant:p.D3N
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GJA4

NM_002060.3:p.D3N

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

Inversion of both gating polarity and CO2 sensitivity of voltage gating with D3N mutation of Cx50.

Peracchia C et al.

American Journal of Physiology. Cell Physiology, 2005

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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."