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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RUVBL1

Variant:p.G121Splc

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RUVBL1

NM_003707.3:p.G121Splc

hg38:chr3:128112887 C>G

Associated Papers

Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair.

Peake JD et al.

Human Genetics, 2022

35596788 (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."