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

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-s001.xlsx › LMNA

Can Circulating Cardiac Biomarkers Be Helpful in the Assessment of LMNA Mutation Carriers?

Chmielewski P et al.

Journal of Clinical Medicine, 2020

Characteristics of ventricular tachycardia and long-term treatment outcome in patients with dilated cardiomyopathy complicated by lamin A/C gene mutations.

Hasebe Y et al.

Journal of Cardiology, 2019

[Deregulation of pre-messenger RNA splicing and rare diseases].

de la Grange P

Medecine Sciences : M/s, 2016

RNA mis-splicing in disease.

Scotti MM et al.

Nature Reviews. Genetics, 2016

Normal and aberrant splicing of LMNA.

Luo YB et al.

Journal of Medical Genetics, 2014

Lamin A/C mutations in dilated cardiomyopathy.

Tesson F et al.

Cardiology Journal, 2014

Electrophysiological and histopathological characteristics of progressive atrioventricular block accompanied by familial dilated cardiomyopathy caused by a novel mutation of lamin A/C gene.

Otomo J et al.

Journal of Cardiovascular Electrophysiology, 2005

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."