Learning disability and myoclonic epilepsy associated with apparently synonymous but splice-disrupting JMJD1C variant that led to 21 bp deletion of the transcript

Mamiko Yamada, Tatsuyuki Sokoda, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Tatsuhiko Yagihashi, Yoshihiro Maruo, Kenjiro Kosaki

Research output: Contribution to journalLetterpeer-review

Original languageEnglish
JournalAmerican Journal of Medical Genetics, Part A
DOIs
Publication statusAccepted/In press - 2020

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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