Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.L184H
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VHL

NM_000551.4:p.L184H

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_1

Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease.

Chiorean A et al.

Human Mutation, 2022

35475554 (PubMed )
Supplement: HUMU-43-1268-s002.xlsx › Data_1

Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.

Fields FR et al.

Plos One, 2020

Genotype-phenotype relations of the von Hippel-Lindau tumor suppressor inferred from a large-scale analysis of disease mutations and interactors.

Minervini G et al.

Plos Computational Biology, 2019

30943211 (PubMed )
Supplement: pcbi.1006478.s001.xlsx › AlignGVGD

An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.

Gossage L et al.

Human Molecular Genetics, 2014

24969085 (PubMed )
Supplement: supp_ddu321_ddu321supp_table.xlsx › Supplementary_Table_2A

Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours.

Crona J et al.

Plos One, 2014

Endocrine pancreatic tumors in von Hippel-Lindau disease: clinical, histological, and genetic features.

Corcos O et al.

Pancreas, 2008

Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.

Gallou C et al.

Human Mutation, 2004

[Neuro-endocrine tumors and von Hippel-Lindau disease. 3 cases].

Aubert-Petit G et al.

Presse Medicale (paris, France : 1983), 1999

[Von Hippel-Lindau disease: recent genetic progress and patient management. Francophone Study Group of von Hippel-Lindau Disease (GEFVH)].

Richard S et al.

Annales D'endocrinologie, 1998

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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."