A de novo splice site mutation in EHMT1 resulting in Kleefstra syndrome with pharmacogenomics screening and behavior therapy for regressive behaviors.

Mol Genet Genomic Med · 2017 · PMC5370220 · PMID 28361099

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highly significantno p-value reported

Gene expression profiling (GEP) data was then used to identify highly significant “EHMT1‐associated genes” (details in Results).

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