Varaico: Literature-Extracted Genetic Variants

Gene:PLN
Variant:p.P21_Q22insFs
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PLN

NM_002667.5:p.P21_Q22insFs

Associated Papers

Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.

García Hernandez S et al.

Circulation, 2025

40879562 (PubMed )
Supplement: cir-152-1060-s002.xlsx › S2._HCM_cohort_variant_classif.

Specification of frequency criteria for secondary findings genes to improve variant classification concordance.

Johnston JJ et al.

Biorxiv : the Preprint Server for Biology, 2025

41000626 (PubMed )
Supplement: media-1.xlsx › Table_S1_Data_and_Reference

Genetic landscape of phospholamban cardiomyopathies.

Vafiadaki E et al.

Frontiers in Cell and Developmental Biology, 2025

"Acquired" sudden cardiac death high-risk genetic mutation in a heart transplant recipient.

Fazzini L et al.

American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2024

Establishment of a Dedicated Inherited Cardiomyopathy Clinic: From Challenges to Improved Patients' Outcome.

Smith E et al.

Journal of the American Heart Association, 2022

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
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