Varaico: Literature-Extracted Genetic Variants

Gene:DST
Variant:p.R1296W
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DST

NM_001374736.1:p.R1296W

Associated Papers

Rare autosomal recessive hereditary sensory and autonomic neuropathy type VI in a Pakistani family caused by a novel DST variant.

Ahmad R et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation.

Cappuccio G et al.

American Journal of Medical Genetics. Part A, 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."