Varaico: Literature-Extracted Genetic Variants

Gene:RBP4
Variant:p.A133V
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RBP4

NM_006744.4:p.A133V

Associated Papers

Unraveling the impact of VHL exon 2 mutations in erythrocytosis or von Hippel-Lindau disease identified RNA-binding proteins involved in VHL splicing.

Karaghiannis V et al.

American Journal of Human Genetics, 2025

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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."