Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.E290K
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LMNA

NM_170707.4:p.E290K

Associated Papers

Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.

Suzuki T et al.

Journal of the American Heart Association, 2025

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India.

Chawla T et al.

Neurogenetics, 2024

The clinical profile, genetic basis and survival of childhood cardiomyopathy: a single-center retrospective study.

Yuan W et al.

European Journal of Pediatrics, 2024

Age and Sex Differences in the Genetics of Cardiomyopathy.

Akinrinade O et al.

Journal of Cardiovascular Translational Research, 2023

37477868 (PubMed )
Supplement: 12265_2023_10411_MOESM1_ESM.xlsx › Table_S2_All_variants

Genetic Contribution to End-Stage Cardiomyopathy Requiring Heart Transplantation.

Kim Y et al.

Circulation. Genomic and Precision Medicine, 2023

37767697 (PubMed )
Supplement: hcg-16-452-s001.pdf

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.

McGurk KA et al.

American Journal of Human Genetics, 2023

37652022 (PubMed )
Supplement: mmc3.xlsx › Table_S9

Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.

Storey EC et al.

Cells, 2022

36552829 (PubMed )
Supplement: cells-11-04065-s001.zip › Storey___Fuller_Supplementary_Materials_S2_Data_extraction.xlsx › Lamins

Pregnancy and Progression of Cardiomyopathy in Women With LMNA Genotype-Positive.

Castrini AI et al.

Journal of the American Heart Association, 2022

35434999 (PubMed )
Supplement: JAH3-11-e024960-s001.pdf

Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study.

Glazer AM et al.

Circulation, 2022

Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy.

Khan RS et al.

Journal of the American Heart Association, 2022

Pathogenic Variants Associated With Dilated Cardiomyopathy Predict Outcome in Pediatric Myocarditis.

Seidel F et al.

Circulation. Genomic and Precision Medicine, 2021

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S6

Exercise is Associated With Impaired Left Ventricular Systolic Function in Patients With Lamin A/C Genotype.

Skjølsvik ET et al.

Journal of the American Heart Association, 2020

31957533 (PubMed )
Supplement: JAH3-9-e012937-s001.pdf

Intermediate filaments in cardiomyopathy.

Tsikitis M et al.

Biophysical Reviews, 2018

Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation.

Hasselberg NE et al.

European Heart Journal, 2018

Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy.

Long PA et al.

Journal of Cardiovascular Development and Disease, 2017

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S1B

Familial accumulation of sudden cardiac deaths and the LMNA variant c.868G>A (p.Glu290Lys).

Finsterer J et al.

International Journal of Cardiology, 2016

Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.

Captur G et al.

Open Heart, 0

30402260 (PubMed )
Supplement: openhrt-2018-000915supp001.docx
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