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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RUBCN

Variant:p.S111C

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RUBCN

NM_014687.4:p.S111C

hg38:chr3:197704674 T>A

Associated Papers

Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.

Stolle C et al.

Human Mutation, 1998

9829911 (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."