Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.K124R
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GJB1

NM_000166.6:p.K124R

Associated Papers

X-linked Charcot Marie Tooth mutations alter CO2 sensitivity of connexin32 hemichannels.

Butler J et al.

Frontiers in Cellular Neuroscience, 2023

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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."