Whole genome sequencing in the 100,000 Genomes project identifies a RYR2 variant associating with dilated cardiomyopathy and sudden unexpected death in the young

FUNDING ACKNOWLEDGEMENTS: Type of funding sources: None. BACKGROUND: Previous studies have shown genetic testing in sudden unexpected death in the young (SUDY) cases identify a pathogenic variant in 13-27% of cases. This diagnostic yield increased up to 39% when genetic testing was combined with fam...

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Detalles Bibliográficos
Autores principales: Ben-Haim, Y, Sangaralingam, A, Pittman, A, Bird, A, Johnson, D, Mohiddin, S, Favaloro, L, Futema, M, Behr, E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
13.1 - Pathophysiology and Mechanisms
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10207587/
http://dx.doi.org/10.1093/europace/euad122.258

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