Varaico: Literature-Extracted Genetic Variants

Gene:GJD2
Variant:p.C231S
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GJD2

NM_020660.3:p.C231S

Associated Papers

A dominant negative mutation of neuronal connexin 36 that blocks intercellular permeability.

Placantonakis D et al.

Brain Research. Molecular Brain Research, 2002

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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."