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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AARS2

Variant:p.L240F

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AARS2

NM_020745.4:p.L240F

hg38:chr6:44311025 G>A

Associated Papers

Novel mitochondrial alanyl-tRNA synthetase 2 (AARS2) heterozygous mutations in a Chinese patient with adult-onset leukoencephalopathy.

Fan Y et al.

Bmc Neurology, 2022

35676634 (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."