Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.C106*
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SORD

NM_003104.6:p.C106*

Associated Papers

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 Genetic Features of Biallelic Mutations in SORD in a Series of Chinese Patients With Charcot-Marie-Tooth and Distal Hereditary Motor Neuropathy.

Liu X et al.

Frontiers in Neurology, 2021

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.

Cortese A et al.

Nature 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."