Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.E213_E214Splc
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LMNA

NM_170707.4:p.E213_E214Splc

Associated Papers

The structure and function of lamin A/C: Special focus on cardiomyopathy and therapeutic interventions.

Tiwari V et al.

Life Sciences, 2024

The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death.

Singer ES et al.

Npj Genomic Medicine, 2023

37821546 (PubMed )
Supplement: 41525_2023_373_MOESM2_ESM.xlsx › Table_S1_Demographics

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
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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."