Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: An integrated evaluation of germline and somatic genomic results
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference50 articles.
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3. VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality;Bender;J. Med. Genet.,2001
4. Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients;Bento;Haematologica,2005
5. Prevalence, birth incidence, and penetrance of von Hippel-Lindau disease (vHL) in Denmark;Binderup;Eur. J. Hum. Genet.,2017
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