Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.D190delFs
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VHL

NM_000551.4:p.D190delFs

Associated Papers

Pancreatic endocrine microadenomatosis in patients with von Hippel-Lindau disease: characterization by VHL/HIF pathway proteins expression.

Périgny M et al.

The American Journal of Surgical Pathology, 2009

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

VHL gene alterations in renal cell carcinoma patients: novel hotspot or founder mutations and linkage disequilibrium.

Ma X et al.

Oncogene, 2001

[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."