Varaico: Literature-Extracted Genetic Variants

Gene:GJA4
Variant:p.G143S
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GJA4

NM_002060.3:p.G143S

Associated Papers

Gap Junction Channelopathies and Calmodulinopathies. Do Disease-Causing Calmodulin Mutants Affect Direct Cell-Cell Communication?

Peracchia C

International Journal of Molecular Sciences, 2021

Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia.

Kelly JJ et al.

Molecular Biology of the Cell, 2016

Diseases associated with leaky hemichannels.

Retamal MA et al.

Frontiers in Cellular Neuroscience, 2015

Mutations in cardiovascular connexin genes.

Molica F et al.

Biology of the Cell, 2014

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

De Bock M et al.

Frontiers in Pharmacology, 2013

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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."