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<jats:title>Key Points</jats:title> <jats:p>Mutations in a VHL cryptic exon may be found in patients with familial erythrocytosis or VHL disease. Synonymous mutations in VHL exon 2 may induce exon skipping and cause familial erythrocytosis or VHL disease.</jats:p>

Original publication

DOI

10.1182/blood-2018-03-838235

Type

Journal article

Journal

Blood

Publisher

American Society of Hematology

Publication Date

02/08/2018

Volume

132

Pages

469 - 483