Varaico: Literature-Extracted Genetic Variants

Gene:DARS2
Variant:p.R76Splc
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DARS2

NM_018122.5:p.R76Splc

Associated Papers

The Leukodystrophies HBSL and LBSL-Correlates and Distinctions.

Muthiah A et al.

Frontiers in Cellular Neuroscience, 2020

Genome-wide discovery of human splicing branchpoints.

Mercer TR et al.

Genome Research, 2015

25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs

Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case without elevated white matter lactate.

Sharma S et al.

Journal of Child 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."