De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.
Genetics in medicine : official journal of the American College of Medical Genetics（2023）
摘要
We propose CNOT9 as a novel gene for neurodevelopmental disorder and epilepsy.
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关键词
CCR4-NOT,CNOT9,RQCD1,epilepsy,intellectual disability,neurodevelopmental delay
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