Novel CPLANE1 c.8948dupT (p.P2984Tfs*7) variant in a child patient with Joubert syndrome
出版年份 2023 全文链接
标题
Novel CPLANE1 c.8948dupT (p.P2984Tfs*7) variant in a child patient with Joubert syndrome
作者
关键词
-
出版物
Open Life Sciences
Volume 18, Issue 1, Pages -
出版商
Walter de Gruyter GmbH
发表日期
2023-02-01
DOI
10.1515/biol-2022-0542
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome
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