Novel Variants of CEP152 in a Case of Compound-Heterozygous Inheritance of Epilepsy
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Introduction CEP152 encodes protein Cep152, which associates with centrosome function. The lack of Cep152 can cause centrosome duplication to fail. CEP152 mutates, causing several diseases such as Seckel syndrome-5 and primary microencephaly-9. Methods In this... ...
