Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.T303Splc
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SORD

NM_003104.6:p.T303Splc

Associated Papers

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

Expanding the genetic and clinical spectrum of SORD-related peripheral neuropathy by reporting a novel variant c.210T>G and evidence of subclinical muscle involvement.

Li L et al.

Journal of the Peripheral Nervous System : Jpns, 2023

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

Hereditary motor neuropathies.

Frasquet M et al.

Current Opinion in Neurology, 2022

Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients.

Laššuthová P et al.

Scientific Reports, 2021

Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy.

Dong HL et al.

Npj Genomic Medicine, 2021

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."