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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GJC1

Variant:p.R8H

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GJC1

NM_005497.4:p.R8H

hg38:chr17:44805795 C>T

Associated Papers

The amino terminal domain plays an important role in transjunctional voltage-dependent gating kinetics of Cx45 gap junctions.

Santos-Miranda A et al.

Journal of Molecular and Cellular Cardiology, 2020

32325151 (PubMed )

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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."