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Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.
PLoS One. 2018 Sep 20;13(9):e0203422. doi: 10.1371/journal.pone.0203422. eCollection 2018.
PLoS One. 2018.
PMID: 30235249
Free PMC article.
Clinical Trial.
The Junctophilin-2 Mutation p.(Thr161Lys) Is Associated with Hypertrophic Cardiomyopathy Using Patient-Specific iPS Cardiomyocytes and Demonstrates Prolonged Action Potential and Increased Arrhythmogenicity.
Valtonen J, Prajapati C, Cherian RM, Vanninen S, Ojala M, Leivo K, Heliö T, Koskenvuo J, Aalto-Setälä K.
Valtonen J, et al. Among authors: leivo k.
Biomedicines. 2023 May 27;11(6):1558. doi: 10.3390/biomedicines11061558.
Biomedicines. 2023.
PMID: 37371654
Free PMC article.
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