Varaico: Literature-Extracted Genetic Variants

Gene:DARS2
Variant:p.S597G
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DARS2

NM_018122.5:p.S597G

Associated Papers

Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants.

Figuccia S et al.

International Journal of Molecular Sciences, 2021

33926074 (PubMed )
Supplement: ijms-22-04524-s001.zip › Supplementary_table_1.pdf

LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations.

Stellingwerff MD et al.

Neurology. Genetics, 2021

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