Varaico: Literature-Extracted Genetic Variants

Gene:WARS2
Variant:p.P266delFs
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WARS2

NM_015836.4:p.P266delFs

Associated Papers

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

Pauly MG et al.

Genes, 2023

NEMMLAS Due to Biallelic WARS2 Variants.

Finsterer J

Journal of Child Neurology, 2020

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.

Tarnopolsky M et al.

Journal of Child Neurology, 2020

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."