Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.A132P
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LMNA

NM_170707.4:p.A132P

Associated Papers

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

Heliö K et al.

Frontiers in Cardiovascular Medicine, 2023

37795486 (PubMed )
Supplement: Table1.xlsx › Sheet1

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

Diagnostic Yield of Genetic Testing in Young Patients With Atrioventricular Block of Unknown Cause.

Resdal Dyssekilde J et al.

Journal of the American Heart Association, 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

Timing of pacemaker and ICD implantation in LMNA mutation carriers.

Ollila LH et al.

Open Heart, 2021

Intermediate filaments in cardiomyopathy.

Tsikitis M et al.

Biophysical Reviews, 2018

Increased ventilatory response to exercise in symptomatic and asymptomatic LMNA mutation carriers: a follow-up study.

Ollila L et al.

Clinical Physiology and Functional Imaging, 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

Lamin A/C mutations in dilated cardiomyopathy.

Tesson F et al.

Cardiology Journal, 2014

Late gadolinium enhanced cardiovascular magnetic resonance of lamin A/C gene mutation related dilated cardiomyopathy.

Holmström M et al.

Journal of Cardiovascular Magnetic Resonance : Official Journal of the Society for Cardiovascular Magnetic Resonance, 2011

Serum lipidomics meets cardiac magnetic resonance imaging: profiling of subjects at risk of dilated cardiomyopathy.

Sysi-Aho M et al.

Plos One, 2011

Early familial dilated cardiomyopathy: identification with determination of disease state parameter from cine MR image data.

Koikkalainen JR et al.

Radiology, 2008

Genetics of dilated cardiomyopathy.

Kärkkäinen S et al.

Annals of Medicine, 2007

Novel mutations in the lamin A/C gene in heart transplant recipients with end stage dilated cardiomyopathy.

Kärkkäinen S et al.

Heart (british Cardiac Society), 2006

[Gene errors of dilated cardiomyopathy].

Heliö T et al.

Duodecim; Laaketieteellinen Aikakauskirja, 2001

Clinical disease presentation and ECG characteristics of LMNA mutation carriers.

Ollila L et al.

Open Heart, 0

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

Captur G et al.

Open Heart, 0

30402260 (PubMed )
Supplement: openhrt-2018-000915supp001.docx
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