DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants.
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DOI: 10.2217/epi-2023-0079
Abstract: Accurate diagnosis for patients living with neurodevelopmental disorders is often met with numerous challenges, related to the ambiguity of findings and lack of specificity in genetic variants leading to pathology. Genome-wide DNA methylation analysis has… read more here.
Keywords: neurodevelopmental disorders; episignatures sensitive; dna methylation; methylation episignatures ... See more keywords