Varaico: Literature-Extracted Genetic Variants

Gene:RBX1
Variant:p.S65L
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RBX1

NM_014248.4:p.S65L

Associated Papers

The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.

Hudler P et al.

Genes, 2022

Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene.

Cybulski C et al.

Journal of Medical Genetics, 2002

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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."