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Article

Plasma proteomics stratification identifies phospholamban R14del carriers at risk for disease progression.

Cardiovascular research - 5 Jun 2026

Deiman Frederik E, Arslan Taner, de Brouwer Remco, Henry Ian, Löfgren Lars, Cavallin Anders, Michopoulos Filippos, Nilsson Ralf, Henricsson Marcus, Ahlstrom Christine, Davidsson Pia, Bomer Nils, Grote Beverborg Niels, van der Meer Peter

Abstract excerpt

AIMS: Incomplete penetrance is common in genetic cardiomyopathy, but poorly understood. Here, we investigate the circulating molecular signature in a cohort of patients with one specific phospholamban (PLN) p.Arg14del (R14del, R14Δ/+) pathogenic variant underlying R14Δ/+ cardiomyopathy and its association with disease variability and progression. METHODS AND RESULTS: Targeted proteomics, metabolomics, and...

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Identifiers

PMID: 42033765
DOI: 10.1093/cvr/cvag089
PMCID: PMC13241056

Genes

PLN

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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