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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP6V1E2

Variant:p.R87*

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ATP6V1E2

NM_001318063.2:p.R87*

hg38:chr2:46512453 G>A

Associated Papers

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )

Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S5-Hom-PTVs

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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."