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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP6V0A2

Variant:p.W537R

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ATP6V0A2

NM_012463.4:p.W537R

hg38:chr12:123747610 T>A

Associated Papers

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Laurie S et al.

Nature Medicine, 2025

39825153 (PubMed )

Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing

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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."