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Reclassification of genetic variants in children with long QT syndrome

BACKGROUND: Genes encoding cardiac ion channels or regulating proteins have been associated with the inherited form of long QT syndrome (LQTS). Complex pathophysiology and missing functional studies, however, often bedevil variant interpretation and classification. We aimed to evaluate the rate of c...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Westphal, Dominik S., Burkard, Tobias, Moscu‐Gregor, Alexander, Gebauer, Roman, Hessling, Gabriele, Wolf, Cordula M.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7506994/
https://ncbi.nlm.nih.gov/pubmed/32383558
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1300
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