Varaico: Literature-Extracted Genetic Variants

Gene:DARS2
Variant:p.P132_K133Splc
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DARS2

NM_018122.5:p.P132_K133Splc

Associated Papers

The Leukodystrophies HBSL and LBSL-Correlates and Distinctions.

Muthiah A et al.

Frontiers in Cellular Neuroscience, 2020

A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation.

Shimojima K et al.

Human Genome Variation, 2017

29138691 (PubMed )
Supplement: hgv201751-s1.pdf

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

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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."