Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.R60delFs
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VHL

NM_000551.4:p.R60delFs

Associated Papers

Exploring the anticancer potential of hydrogen sulfide and BAY‑876 on clear cell renal cell carcinoma cells: Uncovering novel mutations in VHL and KDR genes among ccRCC patients.

Hamadamin PS et al.

Molecular and Clinical Oncology, 2024

38332991 (PubMed )
Supplement: Supplementary_Data4.xlsx › Gene_mutationsMon_Jul_10_22_36_

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

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

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

Gallou C et al.

Human Mutation, 2004

Association of GSTT1 non-null and NAT1 slow/rapid genotypes with von Hippel-Lindau tumour suppressor gene transversions in sporadic renal cell carcinoma.

Gallou C et al.

Pharmacogenetics, 2001

Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC.

Gallou C et al.

Human Mutation, 1999

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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."