Article

Distinct disease mutations in DNMT3A result in a spectrum of behavioral, epigenetic, and transcriptional deficits

2023-02-28

Abstract excerpt

Phenotypic heterogeneity is a common feature of monogenic neurodevelopmental disorders that can arise from differential severity of missense variants underlying disease, but how distinct alleles impact molecular mechanisms to drive variable disease presentation is not well understood. Here, we investigate missense mutations in the DNA methyltransferase DNMT3A associated with variable overgrowth, intellectual disab...

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Literature Corpus work: 152d2f00-1c0d-59d2-af75-486ec4033cef
DOI: 10.1101/2023.02.27.530041

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