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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RARS2

Variant:p.Q277_L280del4

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RARS2

NM_020320.5:p.Q277_L280del4

hg38:chr6:87529579 TTAAGACCTCTTG>T

Associated Papers

Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Rouzier C et al.

Annals of Clinical and Translational Neurology, 2024

38703036 (PubMed )

Supplement: ACN3-11-1478-s004.xlsx › children_patients

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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."