Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.E189delFs
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VHL

NM_000551.4:p.E189delFs

Associated Papers

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › VHL

The incidence of consecutive manifestations in Von Hippel-Lindau disease.

van der Horst-Schrivers ANA et al.

Familial Cancer, 2019

Calculating optimal surveillance for detection of von Hippel-Lindau-related manifestations.

Kruizinga RC et al.

Endocrine-related Cancer, 2014

Concomitant deregulation of HIF1alpha and cell cycle proteins in VHL-mutated renal cell carcinomas.

Atkins DJ et al.

Virchows Archiv : an International Journal of Pathology, 2005

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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."