Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.T27I
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LMNA

NM_170707.4:p.T27I

Associated Papers

Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure.

Mora-Ayestarán N et al.

European Heart Journal, 2025

40878535 (PubMed )
Supplement: ehaf605_supplementary_data.zip › S13._Variant_classification.xlsx › Variant_classification

Much More Than a Stroke: Emery-Dreifuss Muscular Dystrophy Type 2 Revealed by Ischemic Stroke.

Gonçalves F et al.

Cureus, 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

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

Peretto G et al.

Annals of Internal Medicine, 2019

Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes.

Bernasconi P et al.

Nucleus (austin, Tex.), 2018

Distinct Fiber Type Signature in Mouse Muscles Expressing a Mutant Lamin A Responsible for Congenital Muscular Dystrophy in a Patient.

Barateau A et al.

Cells, 2017

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

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

Finsterer J et al.

International Journal of Cardiology, 2016

Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene.

Ruggiero L et al.

Muscle & Nerve, 2015

A family with 2 different hereditary diseases leading to early cardiac involvement.

Nzwalo H et al.

Journal of Clinical Neuromuscular Disease, 2013

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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."