Recessive APC2 missense variants associated with epilepsies without neurodevelopmental disorders.
Seizure(2023)
摘要
This study suggests that APC2 is potentially associated with epilepsy without brain malformation/intellectual disability. The genotype-phenotype correlation helps to understand the underlying mechanisms of phenotypic heterogeneity.
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关键词
APC2, Epilepsy, WES, Genotype-phenotype correlation
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