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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AARS2

Variant:p.L578_G582delFs

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AARS2

NM_020745.4:p.L578_G582delFs

hg38:chr6:44304652 CCTGCCCGCACCAG>C

Associated Papers

Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases.

Felhi R et al.

Molecular Biology Reports, 2020

32319008 (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."