Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.R386Splc
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LMNA

NM_170707.4:p.R386Splc

Associated Papers

Investigating the dual role of mitochondrial and nuclear genome variants in pediatric cardiomyopathies.

Temena MA et al.

Scientific Reports, 2025

40369053 (PubMed )
Supplement: 41598_2025_1007_MOESM2_ESM.xlsx › Table_1C

Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.

Akawi N et al.

Frontiers in Molecular Biosciences, 2024

39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S11

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

Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts.

DuBose AJ et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

Comprehensive mutation scanning of LMNA in 268 patients with lone atrial fibrillation.

Brauch KM et al.

The American Journal of Cardiology, 2009

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

Captur G et al.

Open Heart, 0

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