GeneticsbioRxivPreprint
Human iPSC-derived neuron of 16p11.2 deletion reveals haplotype-specific expression of MAPK3 and its contribution to variable NDD phenotypes
Fang Liu, Liang Chen, Zhengchang Li…·Xiaoli Chen
The paper identifies MAPK3 as a driver gene in 16p11.2 deletion-associated neurodevelopmental disorders, showing haplotype-specific expression and cis-regulatory enhancer SNPs contribute to variable phenotypes.
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