Key result
Cryptic splice-altering variants in the MYBPC3 gene are a prevalent cause of hypertrophic cardiomyopathy.
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May inform expanded MYBPC3 testing in HCM; leaves open validation of pathogenicity and clinical utility.
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Lopes et al. (2020) studied this question. Cryptic splice-altering variants in the MYBPC3 gene are a prevalent cause of hypertrophic cardiomyopathy.
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