New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome
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DOI: 10.1186/s12920-019-0555-y
Abstract: BackgroundNicolaides-Baraitser syndrome (NCBRS) is a neurodevelopmental disorder caused by pathogenic sequence variants in SMARCA2 which encodes the catalytic component of the chromatin remodeling BAF complex. Pathogenic variants in genes that encode epigenetic regulators have been… read more here.
Keywords: methylation; smarca2 variants; model; baraitser syndrome ... See more keywords