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Por favor, use este identificador para citar o enlazar este documento: https://ria.asturias.es/RIA/handle/123456789/14894
Título : Retrospective variant reclassification and resequencing in hypertrophic cardiomyopathy: a reference unit centre experience
Autor : Cuesta-Llavona, Elias
Lorca, Rebeca
Salgado, Maria
Garcia-Lago, Claudia
Rodriguez-Reguero, Julian
Rodriguez-Lopez, Raquel
Escribano-Hernandez, Vanesa
Pena-Cabia, Ana
Vazquez-Coto, Daniel
Pascual, Isaac
Coto, Eliecer
Gomez, Juan
Palabras clave : MOLECULAR-GENETIC BASIS
GUIDELINES
Fecha de publicación : 12-oct-2023
Editorial : OXFORD UNIV PRESS
Citación : - 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.
Resumen : Hypertrophic 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.
URI : https://ria.asturias.es/RIA/handle/123456789/14894
ISSN : 2047-4881
Aparece en las colecciones: Sanidad

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