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Variants identified in SETD2. (A) Exons and introns that conform to the SETD2 gene according to the transcript number NM_014159.7. (B) The SETD2 protein, which is organized into different domains: AWS, associated with the SET domain; SET, Lysine N-methyltransferase domain; PS, post-SET domain; LCR, low charge region; and WW, WW domain. Red dots, variants associated with LLS; blue dots, variants associated with RAPAS; and green dots, variant associated with MRD70.
