Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A6
Variant:p.Y679S
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SLC12A6

NM_001365088.1:p.Y679S

Associated Papers

Clinical and Genetic Variant Profile of Asian Charcot-Marie Tooth Patients: A Systematic Review.

Kavoosi S et al.

Iranian Journal of Public Health, 2025

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."