Empirically downgrading 10 constitutional missense variants of the NF1 gene based on co-existing truncating variants

Am J Med Genet A. 2021 Feb;185(2):602-603. doi: 10.1002/ajmg.a.61976. Epub 2020 Nov 24.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Male
  • Mutation, Missense / genetics
  • Neurofibromatosis 1 / diagnosis
  • Neurofibromatosis 1 / genetics*
  • Neurofibromatosis 1 / pathology
  • Neurofibromin 1 / genetics*

Substances

  • NF1 protein, human
  • Neurofibromin 1