The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotype

Giulia Pascolini, Emanuele Agolini, Antonio Novelli, Silvia Majore, Paola Grammatico

Research output: Contribution to journalLetterpeer-review

Original languageEnglish
Pages (from-to)672-674
Number of pages3
JournalClinical Genetics
Volume97
Issue number4
DOIs
Publication statusPublished - Apr 1 2020

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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