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Cryptic splice-altering variants in MYBPC3 are a prevalent cause of hypertrophic cardiomyopathy
dc.contributor.author | Lopes, Luis R. | |
dc.contributor.author | Barbosa, Pedro | |
dc.contributor.author | Torrado, Mario | |
dc.contributor.author | Quinn, Ellie | |
dc.contributor.author | Merino, Ana | |
dc.contributor.author | Ocha, Juan Pablo | |
dc.contributor.author | Jager, Joanna | |
dc.contributor.author | Futema, Marta | |
dc.contributor.author | Carmo-Fonseca, María | |
dc.contributor.author | Montserrat, Lorenzo | |
dc.contributor.author | Syrris, Petros | |
dc.contributor.author | Elliott, Perry M. | |
dc.date.accessioned | 2024-06-17T10:20:53Z | |
dc.date.available | 2024-06-17T10:20:53Z | |
dc.date.issued | 2020-05-12 | |
dc.identifier.citation | Lopes 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. | es_ES |
dc.identifier.issn | 2574-8300 | |
dc.identifier.uri | http://hdl.handle.net/2183/37011 | |
dc.description | Research letter | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | American Heart Association | es_ES |
dc.relation.uri | https://doi.org/10.1161/circgen.120.002905 | es_ES |
dc.rights | Creative Commons Attribution-NonCommercial 4.0 International License (CC-BY-NC 4.0) | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by-nc/4.0/ | * |
dc.subject | MYBPC3 | es_ES |
dc.subject | Cardiomyopathy | es_ES |
dc.subject | Hypertrophic | es_ES |
dc.subject | Cryptic splice sites | es_ES |
dc.subject | Genetics | es_ES |
dc.subject | Introns | es_ES |
dc.title | Cryptic splice-altering variants in MYBPC3 are a prevalent cause of hypertrophic cardiomyopathy | es_ES |
dc.type | info:eu-repo/semantics/article | es_ES |
dc.rights.access | info:eu-repo/semantics/openAccess | es_ES |
UDC.journalTitle | Circulation: Genomic and Precision Medicine | es_ES |
UDC.volume | 13 | es_ES |
UDC.issue | 3 | es_ES |
UDC.startPage | 165 | es_ES |
UDC.endPage | 167 | es_ES |
dc.identifier.doi | 10.1161/CIRCGEN.120.002905 |
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