Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.L158insFs
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VHL

NM_000551.4:p.L158insFs

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

Retinal haemangioblastomas in von Hippel-Lindau germline mutation carriers: progression, complications and treatment outcome.

Hajjaj A et al.

Acta Ophthalmologica, 2020

32003155 (PubMed )
Supplement: AOS-98-464-s002.pdf

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

[Von Hippel-Lindau disease: a hereditary disease that impacts multiple tissues].

Richard S et al.

Presse Medicale (paris, France : 1983), 1998

Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.

Olschwang S et al.

Human Mutation, 1998

Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors.

Prowse AH et al.

American Journal of Human Genetics, 1997

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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."