Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.E372delFs
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LMNA

NM_170707.4:p.E372delFs

Associated Papers

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

Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'.

Atalaia A et al.

Journal of Neuromuscular Diseases, 2021

33682723 (PubMed )
Supplement: jnd-8-jnd200596-s002.xlsx › Sheet1

Lamin and the heart.

Captur G et al.

Heart (british Cardiac Society), 2018

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Patwardhan A et al.

Genome Medicine, 2015

26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1

Lamin A/C mutations in dilated cardiomyopathy.

Tesson F et al.

Cardiology Journal, 2014

Temporal relationship of conduction system disease and ventricular dysfunction in LMNA cardiomyopathy.

Brodt C et al.

Journal of Cardiac Failure, 2013

Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.

Parks SB et al.

American Heart Journal, 2008

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

Captur G et al.

Open Heart, 0

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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."