Associated Papers
Learning disability and myoclonic epilepsy associated with apparently synonymous but splice-disrupting JMJD1C variant that led to 21 bp deletion of the transcript.
Yamada M et al.
American Journal of Medical Genetics. Part A, 2020
Mutations in JMJD1C are involved in Rett syndrome and intellectual disability.
Sáez MA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
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