Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A6
Variant:p.Y679C
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SLC12A6

NM_001365088.1:p.Y679C

Associated Papers

Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype.

Løseth S et al.

Brain : a Journal of Neurology, 2023

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

Ando M et al.

Annals of Clinical and Translational Neurology, 2022

De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy.

Park J et al.

Journal of Medical Genetics, 2020

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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."