Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.P244L
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SORD

NM_003104.6:p.P244L

Associated Papers

Clinical and Genetic Variant Profile of Asian Charcot-Marie Tooth Patients: A Systematic Review.

Kavoosi S et al.

Iranian Journal of Public Health, 2025

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

Yuan X et al.

Bmc Medical Genomics, 2024

SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause.

Arlt A et al.

Journal of Neurogenetics, 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

No Association between the SORD Gene and Amyotrophic Lateral Sclerosis in a Chinese Cohort.

Yilihamu M et al.

Journal of Clinical Medicine, 2022

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

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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."