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Article

VHL Type 2B gene mutation moderates HIF dosage in vitro and in vivo.

Oncogene - 9 Apr 2009

Lee C M, Hickey M M, Sanford C A, McGuire C G, Cowey C L, Simon M C, Rathmell W K

Abstract excerpt

Von Hippel-Lindau (VHL) disease is caused by germline mutations in the VHL tumor suppressor gene, with Type 2B missense VHL mutations predisposing to renal cell carcinoma, hemangioblastoma and pheochromocytoma. Type 2B mutant pVHL is predicted to be defective in hypoxia inducible factor (HIF)-alp...

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Identifiers

PMID: 19252526
DOI: 10.1038/onc.2009.12
PMCID: PMC2667565

Genes

VHL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19252526-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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