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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.
Yang Q, Zhang Q, Zhou X, Feng J, Zhang S, Lin L, Yi S, Qin Z, Luo J. Yang Q, et al. Among authors: luo j. Front Genet. 2024 Dec 10;15:1503048. doi: 10.3389/fgene.2024.1503048. eCollection 2024. Front Genet. 2024. PMID: 39720179 Free PMC article.
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