Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.C481S
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CLCN1

NM_000083.3:p.C481S

Associated Papers

Identification of a crosstalk between ClC-1 C-terminal CBS domains and the transmembrane region.

Gaitán-Peñas H et al.

The Journal of Physiology, 2025

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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."