Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.E460_D461Splc
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LMNA

NM_170707.4:p.E460_D461Splc

Associated Papers

Genotype-guided cardiac device intervention in LMNA-related cardiac conduction disorder: The need for timely genetic testing.

Inoue S et al.

European Journal of Heart Failure, 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

A fast and cost-effective molecular diagnostic tool for genetic diseases involved in sudden cardiac death.

Chanavat V et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016

Normal and aberrant splicing of LMNA.

Luo YB et al.

Journal of Medical Genetics, 2014

Lamin A/C mutations in dilated cardiomyopathy.

Tesson F et al.

Cardiology Journal, 2014

The MOGE(S) classification for a phenotype-genotype nomenclature of cardiomyopathy: endorsed by the World Heart Federation.

Arbustini E et al.

Journal of the American College of Cardiology, 2013

Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.

van Spaendonck-Zwarts KY et al.

European Journal of Heart Failure, 2013

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

Magagnotti C et al.

Biochimica Et Biophysica Acta, 2012

High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics.

van Tintelen JP et al.

American Heart Journal, 2007

Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

Millat G et al.

European Journal of Medical Genetics, 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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