Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A6
Variant:p.Q214H
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SLC5A6

NM_021095.4:p.Q214H

Associated Papers

SLC5A6 Mutations in Axonal Sensorimotor Polyneuropathy Patients Concurrent With Sodium Dependent Multivitamin Transporter Deficiency and Improved Effects by Multivitamin Therapy.

Pi BK et al.

Journal of the Peripheral Nervous System : Jpns, 2025

Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders.

Utsuno Y et al.

Journal of Human Genetics, 2024

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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."