Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.L169L
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VHL

NM_000551.4:p.L169L

Associated Papers

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.

Winter H et al.

Cancers, 2019

31795195 (PubMed )
Supplement: cancers-11-01895-s001.zip › ICC_ctDNA_Cancers_Supplementary_Table_5._50_cancer_gene_panel_information.xlsx › cms_106003

Von Hippel-Lindau Disease.

Findeis-Hosey JJ et al.

Journal of Pediatric Genetics, 2016

Hemangioblastomas and neurogenic polyglobulia.

Gläsker S et al.

Neurosurgery, 2013

VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V.

Weirich G et al.

The Journal of Clinical Endocrinology and Metabolism, 2002

Selective loss of chromosome 11 in pheochromocytomas associated with the VHL syndrome.

Lui WO et al.

Oncogene, 2002

Third International Meeting on von Hippel-Lindau disease.

Zbar B et al.

Cancer Research, 1999

Sporadic pheochromocytomas are rarely associated with germline mutations in the vhl tumor suppressor gene or the ret protooncogene.

Brauch H et al.

The Journal of Clinical Endocrinology and Metabolism, 1997

von Hippel-Lindau disease.

Maher ER et al.

Medicine, 1997

Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.

Maher ER et al.

Journal of Medical Genetics, 1996

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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."