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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APTX

Variant:p.Y195F

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APTX

NM_001195248.2:p.Y195F

hg38:chr9:32984817 T>A

Associated Papers

Aprataxin resolves adenylated RNA-DNA junctions to maintain genome integrity.

Tumbale P et al.

Nature, 2014

24362567 (PubMed )

Supplement: NIHMS536918-supplement-2.docx

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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."