Whole-exome sequencing identified a novel heterozygous variant in UBAP2L in a Chinese family with neurodevelopmental disorder characterized by impaired language, behavioral abnormalities, and dysmorphic facies

Qi Yang(Guangxi Maternal and Child Health Hospital), Jingsi Luo(Guangxi Maternal and Child Health Hospital), Zailong Qin(Guangxi Maternal and Child Health Hospital), Qiang Zhang(Zhengzhou University), Lin Li(Guangxi Maternal and Child Health Hospital), Shujie Zhang(Northeast Normal University), Shang Yi(Guangxi Maternal and Child Health Hospital), Xunzhao Zhou(Guangxi Maternal and Child Health Hospital), Juntan Feng(Guangxi Maternal and Child Health Hospital)
Frontiers in Genetics
December 10, 2024
Cited by 3


Related Papers