Learning disability and myoclonic epilepsy associated with apparently synonymous but splice‐disrupting JMJD1C variant that led to 21?bp deletion of the transcript
Learning disability and myoclonic epilepsy associated with apparently synonymous but splice‐disrupting JMJD1C variant that led to 21?bp deletion of the transcript
复制标题
学习障碍和肌阵挛性癫痫与明显同义但剪接破坏的 JMJD1C 变体相关，该变体导致转录本的 21bp 删除
DOI：
10.1002/ajmg.a.61892
复制
发表时间：
2020
影响因子：
2
通讯作者：
Kosaki Kenjiro
中科院分区：
文献类型：
--
作者：
Yamada Mamiko;Sokoda Tatsuyuki;Uehara Tomoko;Suzuki Hisato;Takenouchi Toshiki;Yagihashi Tatsuhiko;Maruo Yoshihiro;Kosaki Kenjiro
