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. 2020 Mar 12;13(3):e002783. doi: 10.1161/CIRCGEN.119.002783

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© 2020 The Authors.

Circulation: Genomic and Precision Medicine is published on behalf of the American Heart Association, Inc., by Wolters Kluwer Health, Inc. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution, and reproduction in any medium, provided that the original work is properly cited.

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Figure 3. — A reevaluation of the common MYBPC3Δ25bp intronic variant (MYBPC3^Δ25) in the South Asian population. The MYBPC3^Δ25 is a common variant present in 4% to 8% of the South Asian population (estimated to be carried by ≈100 million people). In a cohort of South Asian hypertrophic cardiomyopathy (HCM) cases, we detected a rare derived haplotype, bearing both MYBPC3^Δ25 and a pathogenic variant, MYBPC3 c.1224-52G>A. The rare MYBPC3^Δ25/−52 haplotype is strongly associated with HCM with high penetrance. Haplotypes bearing MYBPC3^Δ25 without the MYBPC3 c.1224-52G>A variant, which account for the vast majority of South Asian individuals carrying the MYBPC3^Δ25 variant, are not associated with HCM.