Accès ouvert
2026
article
OpenAlex
María Gallego‐Delgado, Sandra Milagros Lorenzo Hernández, Soledad García-Hernández, Sara Rodríguez Diego et autres
BACKGROUND: Disruption of MYBPC3 precursor mRNA splicing is a frequent genetic cause of hypertrophic cardiomyopathy (HCM). Most often, it reflects changes at canonical sites or the creation of novel splice sites. Prediction tools usually prioritize splice variants with lower efficiency when they …
in, es
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Accès ouvert
2024
article
OpenAlex
M Gallego Delgado, Mario Torrado, M Perez Barbeito, Samuel Hernández et autres
Abstract Introduction MYBPC3 splicing errors are a common cause of hypertrophic cardiomyopathy (HCM). Most known actionable intronic variants are located near exons. However, genetic variants in deep intronic regions are also emerging as casuals factors of HCM. The previously undescribed variant MYBPC3 …
es, us
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Accès ouvert
2023
article
OpenAlex
José María García-Aznar, Emilia Maneiro Pampín, Maite García Ramos, María José Acuña Pérez et autres
Background At present, the knowledge about disease-causing mutations in IRF2BP2 is very limited because only a few patients affected by this condition have been reported. As previous studies have described, the haploinsufficiency of this interferon transcriptional corepressors leads to the development of …
es
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