Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.Y262_A263Splc
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SORD

NM_003104.6:p.Y262_A263Splc

Associated Papers

Neuromuscular pathology and mitochondrial dysfunction in sorbitol dehydrogenase gene-related distal hereditary motor neuropathies.

Li Z et al.

Journal of Neuropathology and Experimental Neurology, 2025

A novel mutation in SORD gene associated with distal hereditary motor neuropathies.

Yuan X et al.

Bmc Medical Genomics, 2024

SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.

Pons N et al.

European Journal of Neurology, 2023

Clinical and pathological study of SORD-related distal motor neuropathy caused by novel compound heterozygous mutations in a Chinese patient.

Chen B et al.

Clinical Neurology and Neurosurgery, 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."