Varaico: Literature-Extracted Genetic Variants

Gene:WARS2
Variant:p.S228W
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WARS2

NM_015836.4:p.S228W

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

Parkinson's Disease, Parkinsonisms, and Mitochondria: the Role of Nuclear and Mitochondrial DNA.

Legati A et al.

Current Neurology and Neuroscience Reports, 2023

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

Pauly MG et al.

Genes, 2023

Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy.

Maffezzini C et al.

Molecular Genetics & Genomic Medicine, 2019

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency.

Vantroys E et al.

Orphanet Journal of Rare Diseases, 2018

Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism.

Burke EA et al.

Clinical Genetics, 2018

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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."