Varaico: Literature-Extracted Genetic Variants

Gene:PLN
Variant:p.I12I
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PLN

NM_002667.5:p.I12I

Associated Papers

Genetic landscape of phospholamban cardiomyopathies.

Vafiadaki E et al.

Frontiers in Cell and Developmental Biology, 2025

Phospholamban R14del disease: The past, the present and the future.

Vafiadaki E et al.

Frontiers in Cardiovascular Medicine, 2023

A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations.

Truszkowska GT et al.

Bmc Medical Genetics, 2015

No evidence for an association between the -36A>C phospholamban gene polymorphism and a worse prognosis in heart failure.

Santos DG et al.

Bmc Cardiovascular Disorders, 2009

A human phospholamban promoter polymorphism in dilated cardiomyopathy alters transcriptional regulation by glucocorticoids.

Haghighi K et al.

Human Mutation, 2008

Mutational screening of phospholamban gene in hypertrophic and idiopathic dilated cardiomyopathy and functional study of the PLN -42 C>G mutation.

Medin M et al.

European Journal of Heart Failure, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."