Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.R11delFs
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LMNA

NM_170707.4:p.R11delFs

Associated Papers

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

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

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

Peretto G et al.

Annals of Internal Medicine, 2019

Lamin and the heart.

Captur G et al.

Heart (british Cardiac Society), 2018

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.

Madej-Pilarczyk A et al.

Folia Neuropathologica, 2016

Lamin A/C mutations in dilated cardiomyopathy.

Tesson F et al.

Cardiology Journal, 2014

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

Magagnotti C et al.

Biochimica Et Biophysica Acta, 2012

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."