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

Research output: Contribution to journalLetterpeer-review

Original languageEnglish
Pages (from-to)1072-1074
Number of pages3
JournalHuman Mutation
Volume41
Issue number5
DOIs
Publication statusPublished - May 1 2020

Keywords

  • alternative splicing
  • cerebral cavernous malformations
  • in silico analysis
  • KRIT1

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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