Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.Q246*
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LMNA

NM_170707.4:p.Q246*

Associated Papers

The impact of the European Society of Cardiology guidelines and whole exome sequencing on genetic testing in hereditary cardiac diseases.

Mio C et al.

Clinical Genetics, 2024

Troponin T Assessment Allows for Identification of Mutation Carriers among Young Relatives of Patients with LMNA-Related Dilated Cardiomyopathy.

Chmielewski P et al.

Journal of Clinical Medicine, 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

Shared Genetic Etiology of Primary Dilated Cardiomyopathy and Ischemic Dilated Cardiomyopathy.

Sun Y et al.

Frontiers in Cardiovascular Medicine, 2021

37273834 (PubMed )
Supplement: Data_Sheet_2.xlsx › Sheet1

The Effect of Cyclic Strain on Human Fibroblasts With Lamin A/C Mutations and Its Relation to Heart Disease.

Tran RDH et al.

Journal of Biomechanical Engineering, 2020

Can Circulating Cardiac Biomarkers Be Helpful in the Assessment of LMNA Mutation Carriers?

Chmielewski P et al.

Journal of Clinical Medicine, 2020

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF et al.

American Journal of Human Genetics, 2019

30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2

Intermediate filaments in cardiomyopathy.

Tsikitis M et al.

Biophysical Reviews, 2018

Dupuytren's and Ledderhose Diseases in a Family with LMNA-Related Cardiomyopathy and a Novel Variant in the ASTE1 Gene.

Zaragoza MV et al.

Cells, 2017

Age of heart disease presentation and dysmorphic nuclei in patients with LMNA mutations.

Core JQ et al.

Plos One, 2017

Lamin A/C mutations in dilated cardiomyopathy.

Tesson F et al.

Cardiology Journal, 2014

LMNA mutations in Polish patients with dilated cardiomyopathy: prevalence, clinical characteristics, and in vitro studies.

Saj M et al.

Bmc Medical Genetics, 2013

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."