Cryptic splice-altering variants in MYBPC3 are a prevalent cause of hypertrophic cardiomyopathy

Lopes, Luis R.Barbosa, PedroTorrado, MarioQuinn, EllieMerino, AnaOchoa, Juan PabloJager, JoannaFutema, MartaCarmo-Fonseca, MaríaMontserrat, LorenzoSyrris, PetrosElliott, Perry M.2024-06-172024-06-172020-05-12Lopes LR, Barbosa P, Torrado M, Quinn E, Merino A, Ochoa JP, Jager J, Futema M, Carmo-Fonseca M, Monserrat L, Syrris P, Elliott PM. Cryptic splice-altering variants in MYBPC3 are a prevalent cause of hypertrophic cardiomyopathy. Circ Genom Precis Med. 2020 Jun;13(3):e002905.2574-8300http://hdl.handle.net/2183/37011Research letterengCreative Commons Attribution-NonCommercial 4.0 International License (CC-BY-NC 4.0)http://creativecommons.org/licenses/by-nc/4.0/MYBPC3CardiomyopathyHypertrophicCryptic splice sitesGeneticsIntronsCryptic splice-altering variants in MYBPC3 are a prevalent cause of hypertrophic cardiomyopathyjournal articleopen access10.1161/CIRCGEN.120.002905