Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.K208del1
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LMNA

NM_170707.4:p.K208del1

Associated Papers

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

Intermediate filaments in cardiomyopathy.

Tsikitis M et al.

Biophysical Reviews, 2018

Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation.

Hoorntje ET et al.

Circulation. Cardiovascular Genetics, 2017

28790152 (PubMed )
Supplement: circgenetics_circcvg-2016-001631_supp1.pdf

First report of a novel LMNA mutation in a Chinese family with limb-girdle muscular dystrophy.

Hong G et al.

Journal of Genetics, 2014

Lamin A/C mutations in dilated cardiomyopathy.

Tesson F et al.

Cardiology Journal, 2014

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

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

The laminopathies: a clinical review.

Rankin J et al.

Clinical Genetics, 2006

Laminopathies: multisystem dystrophy syndromes.

Jacob KN et al.

Molecular Genetics and Metabolism, 2006

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

Captur G et al.

Open Heart, 0

Heritability in genetic heart disease: the role of genetic background.

Jansweijer JA et al.

Open Heart, 0

31245010 (PubMed )
Supplement: openhrt-2018-000929supp001.pdf
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