Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.W498*
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LMNA

NM_170707.4:p.W498*

Associated Papers

Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.

Verdonschot JAJ et al.

Circulation. Genomic and Precision Medicine, 2024

38516780 (PubMed )
Supplement: hcg-17-e004416-s001.pdf

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

Genetics of atrial fibrillation-an update of recent findings.

Manoharan A et al.

Molecular Biology Reports, 2022

Cytoskeletal Protein Variants Driving Atrial Fibrillation: Potential Mechanisms of Action.

van Wijk SW et al.

Cells, 2022

Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes.

Yoneda ZT et al.

Jama Cardiology, 2021

34495297 (PubMed )
Supplement: jamacardiol-e213370-s001.pdf

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

A novel nonsense mutation in LMNA gene identified by Exome Sequencing in an atrial fibrillation family.

Zhao J et al.

European Journal of Medical Genetics, 2016

Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.

Captur G et al.

Open Heart, 0

30402260 (PubMed )
Supplement: openhrt-2018-000915supp002.xlsx › gnomad_ENSG00000160789_2017_12_
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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."