Varaico: Literature-Extracted Genetic Variants

Gene:DARS2
Variant:p.R76Splc
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DARS2

NM_018122.5:p.R76Splc

Associated Papers

AAV9-DARS2 Gene Therapy Rescues Phenotype in Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Patient Cells and Neuronal Dars2 Deficient Mice.

Garofolo I et al.

Annals of Neurology, 2025

Aminolevulinate/iron exposure elicited Nrf-2-mediated cytoprotection in DARS2 deficient fibroblasts with impaired energy and antioxidant metabolisms.

Huang WL et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2025

Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation.

Huang WL et al.

Molecular Genetics and Metabolism Reports, 2024

Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing.

Guang S et al.

Scientific Reports, 2023

Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing.

Guang S et al.

Research Square, 2023

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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."