Abstract:Background
The high heritability and heterogeneity of autism spectrum disorder (ASD) are fundamentally determined by its varying genetic alterations including over 100 confident ASD-risk genes/genomic regions. Lysine Methyltransferase 2E (KMT2E, also named MLL5), a distinct chromatin/transcription regulator, is recently identified as a confident ASD-risk gene with germline de novo mutations in ASD probands. Clarifying the function and mechanism of KMT2E haploinsufficiency in ASD-like behaviours is important f… Show more
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