Litcius/Paper detail

Novel compound heterozygous missense variants in TOE1 gene associated with pontocerebellar hypoplasia type 7

Chun Wang, Yusong Ge, Runjie Li, Guiyuan He, Yongzhong Lin

2023Gene16 citationsDOI

Topics & Concepts

BiologyMissense mutationCompound heterozygosityGeneticsGeneMutationFetal and Pediatric Neurological DisordersGenomics and Rare DiseasesGenetic Syndromes and Imprinting
Novel compound heterozygous missense variants in TOE1 gene associated with pontocerebellar hypoplasia type 7 | Litcius