Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia

BACKGROUND: Distinguishing genetic variants that cause disease from variants that are rare but benign is one of the principal challenges in contemporary clinical genetics, particularly as variants are identified at a pace exceeding the capacity of researchers to characterise them functionally. METHO...

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Detalles Bibliográficos
Autores principales: Walsh, Roddy, Peters, Nicholas S, Cook, Stuart A, Ware, James S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2014
Materias:
Functional Genomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3888601/
https://www.ncbi.nlm.nih.gov/pubmed/24136861
http://dx.doi.org/10.1136/jmedgenet-2013-101917

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