A presumed missense variant in the U2AF2 gene causes exon skipping in neurodevelopmental diseases
Xiaole Wang, Baiyang You, Fei Yin, Chen Chen, Hailan He, Fangyun Liu, Pan Zou, Xiaoyuan Ni, Nan Pang, Jing Peng
Topics & Concepts
Missense mutationExonBiologyGeneticsExon skippingRNA splicingMicrocephalyGeneAlternative splicingCompound heterozygosityPhenotypeRNARNA Research and SplicingRNA modifications and cancerRNA and protein synthesis mechanisms