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

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2020-12, Vol.182 (12), p.3064-3067
Main Authors: Yamada, Mamiko, Sokoda, Tatsuyuki, Uehara, Tomoko, Suzuki, Hisato, Takenouchi, Toshiki, Yagihashi, Tatsuhiko, Maruo, Yoshihiro, Kosaki, Kenjiro
Format: Article
Language:English
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ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.61892