Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene

Hum Mutat. 2020 May;41(5):1069-1071. doi: 10.1002/humu.24000.
No abstract available

Keywords: KRIT1 gene; cerebral cavernous malformations; functional studies; in silico analysis; splicing variants; variant interpretation.

Publication types

  • Letter
  • Comment

MeSH terms

  • Hemangioma, Cavernous, Central Nervous System*
  • Humans
  • KRIT1 Protein
  • Pathology, Molecular*
  • Workflow

Substances

  • KRIT1 Protein
  • KRIT1 protein, human

Supplementary concepts

  • Familial cerebral cavernous malformation