A missense variant in the nuclear export signal of the FMR1 gene causes intellectual disability

Shimriet Zeidler,Lies Anne Severijnen,Helen de Boer,Esmay C van der Toorn,Claudia A L Ruivenkamp,Emilia K Bijlsma,Rob Willemsen

Gene（2021）

引用 6|浏览20

暂无评分

摘要

•Missense variants account for a small fraction of the causes of fragile X syndrome.•We describe a new missense variant in the FMR1-gene, in the FMRPs nuclear export signal.

查看译文

关键词

ACMG,DMEM,FMRP,FXS,ID,KO,NES,NLS,UTR,WES

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要