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Von Hippel-Lindau disease (VHL) is a dominant inherited syndrome characterized by the predisposition to develop various kinds of benign and malignant tumors. VHL syndrome is caused by germline mutation in the VHL tumor suppressor, and VHL tumors are associated with loss or mutation of the remaining wild-type allele. VHL protein is also involved in the degradation of hypoxia-inducible factor (HIF).
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| Regulatory Status |
RUO – Research Use Only |
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