Novel heterozygous missense variants in the TOE1 gene linked to pontocerebellar hypoplasia type 7 - Aijun Yang; Xiaoli Kong; Qin Wang; Runqing Miao; Haixiang Ma; Anzhuo Chu; Zhengtong Wang; Jiaqing Lu; Bo Liu; Bingcheng Mu; Runhan Guo; Jiayi Li; et al. (Genes and Diseases)