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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POLG

Variant:p.A242V

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POLG

NM_002693.3:p.A242V

hg38:chr15:89330211 G>A

Associated Papers

A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.

Méndez-Vidal C et al.

Journal of Translational Medicine, 2025

39833864 (PubMed )

Supplement: 12967_2025_6069_MOESM3_ESM.xlsx › Validation_cases

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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."