Management of Gene Variants of Unknown Significance: Analysis Method and Risk Assessment of the VHL Mutation p.P81S (c.241C>T)

Daniela Alosi, Marie Luise Bisgaard, Sophie Nowak Hemmingsen, Lotte Nylandsted Krogh, Hanne Birte Mikkelsen, Marie Louise Molgaard Binderup

1 Citation (Scopus)
Original languageEnglish
JournalCurrent Genomics
Volume18
Issue number1
Pages (from-to)93-103
Number of pages11
ISSN1389-2029
DOIs
Publication statusPublished - 2017

Keywords

  • Genetic screening
  • Missense mutation
  • Renal cell carcinoma
  • VHL gene
  • Von Hippel-Lindau disease
  • Variant of unknown significance

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