Article

In Silico Analysis of Novel <i>VHL</i> Germline Mutations in Iranian RCH Patients

2022-10-27

Abstract excerpt

Von Hippel-Lindau (VHL) syndrome is an autosomal dominant inherited multisystem neoplasia disorder caused by the VHL tumor suppressor gene, coding for VHL protein (pVHL), variants. Various types of VHL variants present different clinical phenotypes that later lead to events resulting in benign or malignant lesions including Retinal Capillary Hemangioblastoma (RCH). We reported on 3 novel mutation sites observed...

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Literature Corpus work: 3feb988b-bc63-59f0-8d03-2d8ccbcd7e7b
DOI: 10.1101/2022.10.26.513811

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