Varaico: Literature-Extracted Genetic Variants

Gene:WARS1
Variant:p.H257R
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WARS1

NM_004184.4:p.H257R

Associated Papers

Yeast models for Charcot-Marie-Tooth disease-causing aminoacyl-tRNA synthetase alleles reveal the cellular basis of disease.

Mahmood M et al.

Iubmb Life, 2025

Distal hereditary motor neuropathies.

Tazir M et al.

Revue Neurologique, 2024

Dominant aminoacyl-tRNA synthetase disorders: lessons learned from in vivo disease models.

Kalotay E et al.

Frontiers in Neuroscience, 2023

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.

Lin SJ et al.

Human Mutation, 2022

Four pedigrees with aminoacyl-tRNA synthetase abnormalities.

Okamoto N et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

The expanding genetic landscape of hereditary motor neuropathies.

Beijer D et al.

Brain : a Journal of Neurology, 2020

Reply: A novel WARS mutation causes distal hereditary motor neuropathy in a Chinese family.

Liao YC et al.

Brain : a Journal of Neurology, 2019

A novel WARS mutation causes distal hereditary motor neuropathy in a Chinese family.

Li JQ et al.

Brain : a Journal of Neurology, 2019

A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family.

Wang B et al.

Clinical Genetics, 2019

Neurodegenerative Charcot-Marie-Tooth disease as a case study to decipher novel functions of aminoacyl-tRNA synthetases.

Wei N et al.

The Journal of Biological Chemistry, 2019

Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease.

Meyer-Schuman R et al.

Human Molecular Genetics, 2017

A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy.

Tsai PC et al.

Brain : a Journal of Neurology, 2017

[Hereditary neuropathies].

Vallat JM et al.

La Revue Du Praticien, 2008

[Congenital hereditary motor and sensory neuropathy].

Routon MC et al.

Revue Neurologique, 1991

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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."