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The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unreponsive to standard heart failure therapy.
Eijgenraam TR, Boukens BJ, Boogerd CJ, Schouten EM, van de Kolk CWA, Stege NM, Te Rijdt WP, Hoorntje ET, van der Zwaag PA, van Rooij E, van Tintelen JP, van den Berg MP, van der Meer P, van der Velden J, Silljé HHW, de Boer RA. Eijgenraam TR, et al. Sci Rep. 2020 Jun 17;10(1):9819. doi: 10.1038/s41598-020-66656-9. Sci Rep. 2020. PMID: 32555305 Free PMC article.