Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.R72L
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LMNA

NM_170707.4:p.R72L

Associated Papers

Genomic stop codon scanning reveals quantitative principles of nonsense-mediated mRNA decay.

Cortázar MA et al.

Biorxiv : the Preprint Server for Biology, 2025

41509423 (PubMed )
Supplement: media-2.xlsx › mRNA_expression

Variant-Specific Late Gadolinium Enhancement Patterns Influence Clinical Outcomes in LMNA-Related Cardiomyopathy.

Castrichini M et al.

Journal of the American Heart Association, 2025

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

Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region.

Pagola-Lorz I et al.

Orphanet Journal of Rare Diseases, 2019

Intermediate filaments in cardiomyopathy.

Tsikitis M et al.

Biophysical Reviews, 2018

Lamin A/C mutations in dilated cardiomyopathy.

Tesson F et al.

Cardiology Journal, 2014

Genetic testing for dilated cardiomyopathy in clinical practice.

Lakdawala NK et al.

Journal of Cardiac Failure, 2012

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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