Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A6
Variant:p.S647P
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SLC12A6

NM_001365088.1:p.S647P

Associated Papers

Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variants.

Record CJ et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2026

Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease.

Ando M et al.

Annals of Clinical and Translational Neurology, 2022

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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."