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Whole Exome Sequencing in a Large Pedigree with DCM Identifies a Novel Mutation in RBM20

BACKGROUND: Familial dilated cardiomyopathy (DCM) is genetically heterogeneous and is associated with mutations in at least 40 different genes. Apart from TTN encoding the giant protein Titin, none of these genes have an expected diagnostic yield of more than 5 % complicating genetic diagnosis. Whol...

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Dettagli Bibliografici
Pubblicato in:Acta Cardiol
Autori principali: Robyns, Tomas, Willems, Rik, Cleemput, Johan Van, Jhangiani, Shalini, Muzny, Donna, Gibbs, Richard, Lupski, James R., Breckpot, Jeroen, Devriendt, Koenraad, Corveleyn, Anniek
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2019
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7124986/
https://ncbi.nlm.nih.gov/pubmed/31583969
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/00015385.2019.1674490
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