Identification of two novel pathogenic mutations in the SKOR2 gene linked to cerebellar hypoplasia and a broad spectrum of neurodevelopmental delay in two Iranian families
遗传学
移码突变
生物
错义突变
外显子组测序
桑格测序
表型
张力减退
基因
突变
生物信息学
作者
Mohammad Ali Farazi Fard,Zahra Tabatabaei,Mobarakeh Ajam-Hosseini,Pooneh Nikuei,Fatemeh Gila,Farshid Parvini,Payman Jamali