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dc.contributor.authorCuesta-Llavona, Elias-
dc.contributor.authorLorca, Rebeca-
dc.contributor.authorSalgado, Maria-
dc.contributor.authorGarcia-Lago, Claudia-
dc.contributor.authorRodriguez-Reguero, Julian-
dc.contributor.authorRodriguez-Lopez, Raquel-
dc.contributor.authorEscribano-Hernandez, Vanesa-
dc.contributor.authorPena-Cabia, Ana-
dc.contributor.authorVazquez-Coto, Daniel-
dc.contributor.authorPascual, Isaac-
dc.contributor.authorCoto, Eliecer-
dc.contributor.authorGomez, Juan-
dc.date.accessioned2025-05-21T06:04:28Z-
dc.date.available2025-05-21T06:04:28Z-
dc.date.issued2023-10-12-
dc.identifier.citation- Cuesta LLavona, E; Lorca, R; Salgado, M; Garcia Lago, C; Rodriguez Reguero, J; Rodriguez Lopez, R; Escribano Hernandez, V; Pena Cabia, A; Vazquez Coto, D; Pascual, I; Coto, E; Gomez, J. Retrospective variant reclassification and resequencing in hypertrophic cardiomyopathy: A Reference Unit Centre Experience. Eur J Prev Cardiol. 2023. 31. (6). p. 38-41. DOI: 10.1093/eurjpc/zwad325.es_ES
dc.identifier.issn2047-4881-
dc.identifier.urihttps://ria.asturias.es/RIA/handle/123456789/14894-
dc.description.abstractHypertrophic cardiomyopathy (HCM) is the most common hereditary heart disease, caused by pathogenic variants mainly in sarcomere genes.1,2 Next generation sequencing (NGS) has significantly increased the number of variants of uncertain significance (VUS).2–4 Thus, accurate classification is a great challenge, especially in variants classified before publication of American College of Medical Genetics (ACMG) criteria.5 The aim of the study was to perform a retrospective reclassification and resequencing in a long-standing HCM cohort.es_ES
dc.description.sponsorshipInstituto de Investigación Sanitaria del Principado de Asturias (ISPA)es_ES
dc.language.isoenes_ES
dc.publisherOXFORD UNIV PRESSes_ES
dc.rightsAtribución-NoComercial 3.0 España*
dc.rights.urihttp://creativecommons.org/licenses/by-nc/3.0/es/*
dc.subjectMOLECULAR-GENETIC BASISes_ES
dc.subjectGUIDELINESes_ES
dc.titleRetrospective variant reclassification and resequencing in hypertrophic cardiomyopathy: a reference unit centre experiencees_ES
dc.typeOtroses_ES
Aparece en las colecciones: Sanidad

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