Learning disability and myoclonic epilepsy associated with apparently synonymous but splice-disrupting JMJD1C variant that led to 21 bp deletion of the transcript.
Mamiko YamadaTatsuyuki SokodaTomoko UeharaHisato SuzukiToshiki TakenouchiTatsuhiko YagihashiYoshihiro MaruoKenjiro KosakiPublished in: American journal of medical genetics. Part A (2020)