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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MARS2

Variant:p.M329T

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MARS2

NM_138395.4:p.M329T

hg38:chr2:197706391 T>C

Associated Papers

FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei.

Sahai SK et al.

Annals of Clinical and Translational Neurology, 2018

30250868 (PubMed )

Supplement: ACN3-5-1128-s001.docx

The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.

Diodato D et al.

International Journal of Cell Biology, 2014

24639874 (PubMed )

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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."