The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death

There is an incomplete understanding of the burden of splice-disrupting variants in definitively associated inherited heart disease genes and whether these genes can amplify from blood RNA to support functional confirmation of splicing outcomes. We performed burden testing of rare splice-disrupting...

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Detalles Bibliográficos
Autores principales: Singer, Emma S., Crowe, Joshua, Holliday, Mira, Isbister, Julia C., Lal, Sean, Nowak, Natalie, Yeates, Laura, Burns, Charlotte, Rajagopalan, Sulekha, Macciocca, Ivan, King, Ingrid, Wacker, Julie, Ingles, Jodie, Weintraub, Robert G., Semsarian, Christopher, Bagnall, Richard D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10567745/
https://www.ncbi.nlm.nih.gov/pubmed/37821546
http://dx.doi.org/10.1038/s41525-023-00373-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10567745/
https://www.ncbi.nlm.nih.gov/pubmed/37821546
http://dx.doi.org/10.1038/s41525-023-00373-w

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