Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A6
Variant:p.G552D
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SLC12A6

NM_001365088.1:p.G552D

Associated Papers

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

Record CJ et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2026

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

Løseth S et al.

Brain : a Journal of Neurology, 2023

Complex genetic variants and novel phenotypes in hereditary peripheral neuropathies.

Horvath R

Brain : a Journal of Neurology, 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."