Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.R527fs
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LMNA

NM_170707.4:p.R527fs

Associated Papers

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

Heliö K et al.

Frontiers in Cardiovascular Medicine, 2023

37795486 (PubMed )
Supplement: Table1.xlsx › Sheet1

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

Biventricular, endocardial, and epicardial substrate characterization for ventricular tachycardia and correlation with whole-heart macropathology and histopathology in a patient with lamin A/C cardiomyopathy.

Bhaskaran A et al.

Heartrhythm Case Reports, 2019

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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."