Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.E36*
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VHL

NM_000551.4:p.E36*

Associated Papers

Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease.

Serghini A et al.

Human Molecular Genetics, 2024

37883464 (PubMed )
Supplement: supplementary_tables_marked_edit_ddad181.xlsx › Supplementary_Table_2

Monogenic basis of young-onset cryptogenic stroke: a multicenter study.

Yuan WZ et al.

Annals of Translational Medicine, 2022

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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."