Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.W498R
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LMNA

NM_170707.4:p.W498R

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

Slower diffusion and anomalous association of R453W lamin A protein alter nuclear architecture in AD-EDMD.

Mukherjee C et al.

Rsc Advances, 2022

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

Intermediate filaments in cardiomyopathy.

Tsikitis M et al.

Biophysical Reviews, 2018

Lamin and the heart.

Captur G et al.

Heart (british Cardiac Society), 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

Systematic identification of pathological lamin A interactors.

Dittmer TA et al.

Molecular Biology of the Cell, 2014

Lamin A/C mutations in dilated cardiomyopathy.

Tesson F et al.

Cardiology Journal, 2014

Genotype-phenotype correlations in laminopathies: how does fate translate?

Scharner J et al.

Biochemical Society Transactions, 2010

Long-term outcome and risk stratification in dilated cardiolaminopathies.

Pasotti M et al.

Journal of the American College of Cardiology, 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."