Varaico: Literature-Extracted Genetic Variants

Gene:CLCN6
Variant:p.Y781C
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CLCN6

NM_001286.5:p.Y781C

Associated Papers

Distinct ClC-6 and ClC-7 Cl- sensitivities provide insight into ClC-7's role in lysosomal Cl- homeostasis.

Coppola MA et al.

The Journal of Physiology, 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."