Varaico: Literature-Extracted Genetic Variants

Gene:WARS2
Variant:p.G50D
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WARS2

NM_015836.4:p.G50D

Associated Papers

WARS2 -Associated Neuropsychiatric Phenotype in Childhood: A Case-Based Review.

Kalita S et al.

Annals of Indian Academy of Neurology, 2025

Compound Heterozygous WARS2 Variants Including a Hypomorphic Allele Cause a Milder Phenotype of Complex Dopa Responsive Dystonia: Case Report and Review of the Literature.

Schneider V et al.

Cerebellum (london, England), 2024

The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant.

Pauly MG et al.

Genes, 2023

WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia.

Skorvanek M et al.

Parkinsonism & Related Disorders, 2022

Mutation of the WARS2 Gene as the Cause of a Severe Hyperkinetic Movement Disorder.

Hübers A et al.

Movement Disorders Clinical Practice, 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."