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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC25A13

Variant:p.R547_A554insFs

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SLC25A13

NM_014251.3:p.R547_A554insFs

hg38:chr7:96121927 A>AGCCCGGGCAGCCACCTGTAATCT

Associated Papers

Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study.

Almontashiri NAM et al.

Scientific Reports, 2020

32523032 (PubMed )

Supplement: 41598_2020_66401_MOESM3_ESM.xlsx › Table_S2

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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."