Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.E65G
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LMNA

NM_170707.4:p.E65G

Associated Papers

Major arrhythmias in non-dilated left ventricular cardiomyopathy: a novel prediction score.

Peretto G et al.

European Heart Journal, 2026

Natural history of skeletal muscle laminopathies: a 2-year prospective study.

Santovito LS et al.

Neuromuscular Disorders : Nmd, 2025

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

Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.

Anderson CL et al.

Npj Genomic Medicine, 2021

34862408 (PubMed )
Supplement: 41525_2021_265_MOESM1_ESM.pdf

Need for NAD+: Focus on Striated Muscle Laminopathies.

Cardoso D et al.

Cells, 2020

Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.

Peretto G et al.

Annals of Internal Medicine, 2019

Lamin A molecular compression and sliding as mechanisms behind nucleoskeleton elasticity.

Makarov AA et al.

Nature Communications, 2019

Laminopathies; Mutations on single gene and various human genetic diseases.

Kang SM et al.

Bmb Reports, 2018

LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes.

Florwick A et al.

Frontiers in Genetics, 2017

28663758 (PubMed )
Supplement: Table_2.XLSX › Sheet1

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.

Madej-Pilarczyk A et al.

Folia Neuropathologica, 2016

Protein profiling reveals energy metabolism and cytoskeletal protein alterations in LMNA mutation carriers.

Magagnotti C et al.

Biochimica Et Biophysica Acta, 2012

Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy.

Quarta G et al.

European Heart Journal, 2012

Nuclear envelope defects in muscular dystrophy.

Roux KJ et al.

Biochimica Et Biophysica Acta, 2007

[Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations].

Ben Yaou R et al.

Revue Neurologique, 2005

Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.

Vytopil M et al.

Journal of Medical Genetics, 2003

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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."