Neurodevelopmental disorder caused by a truncating de novo variant of IRF2BPL
Xiaohang Qian, Xiaoying Liu, Zeyu Zhu, Shige Wang, Xiaoxuan Song, Guang Chen, Jingying Wu, Huidong Tang, Li Cao
Topics & Concepts
GeneticsMutationBiologySanger sequencingNeurodevelopmental disorderGeneExome sequencingAtaxiaCerebellar ataxiaGene mutationIntellectual disabilityBioinformaticsNeuroscienceGenomics and Rare DiseasesGenetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways