Varaico: Literature-Extracted Genetic Variants

Gene:DARS2
Variant:p.R76Splc
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DARS2

NM_018122.5:p.R76Splc

Associated Papers

Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Novel DARS2 Mutation and Intra-Familial Heterogeneity.

Li JL et al.

Movement Disorders Clinical Practice, 2021

The Leukodystrophies HBSL and LBSL-Correlates and Distinctions.

Muthiah A et al.

Frontiers in Cellular Neuroscience, 2020

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy.

van Berge L et al.

Brain : a Journal of Neurology, 2014

[Clinical and genetic analysis of a family with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation].

Huang QH et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2012

Clinically asymptomatic adult patient with extensive LBSL MRI pattern and DARS2 mutations.

Labauge P et al.

Journal of Neurology, 2011

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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."