Varaico: Literature-Extracted Genetic Variants

Gene:WARS2
Variant:p.G54E
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WARS2

NM_015836.4:p.G54E

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

A Novel WARS2 Mutation in a Swiss Family With Predominant Generalized Dystonia Responsive to Trihexyphenidyl.

Mihaylova V et al.

Journal of Clinical Neurology (seoul, Korea), 2023

3Cnet: pathogenicity prediction of human variants using multitask learning with evolutionary constraints.

Won DG et al.

Bioinformatics (oxford, England), 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."