Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.P509insFs
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LMNA

NM_170707.4:p.P509insFs

Associated Papers

A potential pathogenic mutation of LAMA4 in a Chinese family with dilated cardiomyopathy and conduction system disease.

Wang H et al.

Medicine, 2024

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

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

Finsterer J et al.

International Journal of Cardiology, 2016

A novel mutation of the LMNA gene in a family with dilated cardiomyopathy, conduction system disease, and sudden cardiac death of young females.

Chen W et al.

Molecular and Cellular Biochemistry, 2013

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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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."