Varaico: Literature-Extracted Genetic Variants

Gene:GARS1
Variant:p.S265Y
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GARS1

NM_002047.4:p.S265Y

Associated Papers

Current profile of Charcot-Marie-Tooth disease in Africa: A systematic review.

Yalcouyé A et al.

Journal of the Peripheral Nervous System : Jpns, 2022

A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans.

Mahungu AC et al.

Orphanet Journal of Rare Diseases, 2022

35331287 (PubMed )
Supplement: 13023_2022_2280_MOESM1_ESM.xlsx › Sheet1

Variants of aminoacyl-tRNA synthetase genes in Charcot-Marie-Tooth disease: A Korean cohort study.

Nam DE et al.

Journal of the Peripheral Nervous System : Jpns, 2022

Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families.

Xie Y et al.

Frontiers in Neurology, 2020

33381078 (PubMed )
Supplement: Data_Sheet_1.docx

A novel mutation in the GARS gene in a Malian family with Charcot-Marie-Tooth disease.

Yalcouyé A et al.

Molecular Genetics & Genomic Medicine, 2019

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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."