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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NTHL1

Variant:p.E39Splc

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NTHL1

NM_002528.7:p.E39Splc

hg38:chr16:2046367 C>T

Associated Papers

Splicing-Disrupting Mutations in Inherited Predisposition to Solid Pediatric Cancer.

Alba-Pavón P et al.

Cancers, 2022

36497448 (PubMed )

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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."