Varaico: Literature-Extracted Genetic Variants

Gene:WARS2
Variant:p.M227V
Back to variants list

WARS2

NM_015836.4:p.M227V

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

Investigation in yeast of novel variants in mitochondrial aminoacyl-tRNA synthetases WARS2, NARS2, and RARS2 genes associated with mitochondrial diseases.

Figuccia S et al.

Human Molecular Genetics, 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

Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study.

Mastrangelo M et al.

Frontiers in Neurology, 2022

Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism.

Martinelli S et al.

Parkinsonism & Related Disorders, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."