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A Synonymous VHL Mutation Causes Pathogenic Familial Hemangioblastoma Through Dysregulated Splicing
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BMC medical genetics
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.
Case Report: A Synonymous VHL Mutation (c.414A>G, p.Pro138Pro) Causes Pathogenic Familial Hemangioblastoma Through Dysregulated Splicing
BMC Med. Genet. 2020 Feb 27;[EPub Ahead of Print], F Liu, B Calhoun, MS Alam, M Sun, X Wang, C Zhang, K Haldar, X LuFrom MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.