Varaico: Literature-Extracted Genetic Variants

Gene:DARS1
Variant:p.V120delins
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DARS1

NM_001349.4:p.V120delins

Associated Papers

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
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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."