Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.N466delFs
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LMNA

NM_170707.4:p.N466delFs

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

Lamin A/C mutations in dilated cardiomyopathy.

Tesson F et al.

Cardiology Journal, 2014

The laminopathies: a clinical review.

Rankin J et al.

Clinical Genetics, 2006

Genetic and phenotypic analysis of dilated cardiomyopathy with conduction system disease: demand for strategies in the management of presymptomatic lamin A/C mutant carriers.

Perrot A et al.

European Journal of Heart Failure, 2006

Laminopathies: multisystem dystrophy syndromes.

Jacob KN et al.

Molecular Genetics and Metabolism, 2006

Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.

Taylor MR et al.

Journal of the American College of Cardiology, 2003

Life at the edge: the nuclear envelope and human disease.

Burke B et al.

Nature Reviews. Molecular Cell Biology, 2002

A R644C mutation within lamin A extends the mutations causing dilated cardiomyopathy.

Genschel J et al.

Human Mutation, 2001

Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement.

Schmidt HH et al.

Circulation, 2001

Mutations in the LMNA gene encoding lamin A/C.

Genschel J et al.

Human Mutation, 2000

A new frameshift mutation at codon 466 (1397delA) within the LMNA gene.

Genschel J et al.

Human Mutation, 2000

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."