Varaico: Literature-Extracted Genetic Variants

Gene:PLN
Variant:p.I18T
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PLN

NM_002667.5:p.I18T

Associated Papers

Genetic landscape of phospholamban cardiomyopathies.

Vafiadaki E et al.

Frontiers in Cell and Developmental Biology, 2025

Missense variants in phospholamban and cardiac myosin binding protein identified in patients with a family history and clinical diagnosis of dilated cardiomyopathy.

Armanious GP et al.

Biochimica Et Biophysica Acta. Molecular Cell Research, 2024

Structures of PKA-phospholamban complexes reveal a mechanism of familial dilated cardiomyopathy.

Qin J et al.

Elife, 2022

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S4

Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.

Lopes LR et al.

Heart (british Cardiac Society), 2015

25351510 (PubMed )
Supplement: heartjnl-2014-306387-s2.pdf

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.

Lopes LR et al.

Journal of Medical Genetics, 2013

23396983 (PubMed )
Supplement: jmedgenet-2012-101270-s2.pdf
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