Varaico: Literature-Extracted Genetic Variants

Gene:WARS2
Variant:p.P266fs
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WARS2

NM_015836.4:p.P266fs

Associated Papers

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

Kalita S et al.

Annals of Indian Academy of Neurology, 2025

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

Expanding the Phenotype: Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements and Lactic Acidosis, With or Without Seizures (NEMMLAS) due to WARS2 Biallelic Variants, Encoding Mitochondrial Tryptophanyl-tRNA Synthase.

Virdee M et al.

Journal of Child Neurology, 2019

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 variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.

Wortmann SB et al.

Human Mutation, 2017

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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."