Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.L379F
Back to variants list

LMNA

NM_170707.4:p.L379F

Associated Papers

Telomere shortening in laminopathic dilated cardiomyopathy.

Chang ACY et al.

Npj Regenerative Medicine, 2026

A Case of Cardiogenic Stroke With a Novel LMNA Variant (c. 1135C>A; p.Leu379Ile).

Tokuda N et al.

Cureus, 2023

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

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

Genetic Mechanisms Contribute to the Development of Heart Failure in Patients with Atrioventricular Block and Right Ventricular Apical Pacing.

Liu N et al.

Scientific Reports, 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

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Patwardhan A et al.

Genome Medicine, 2015

26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1

Implantable cardioverter-defibrillators in lamin A/C mutation carriers with cardiac conduction disorders.

Anselme F et al.

Heart Rhythm, 2013

[Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations].

Ben Yaou R et al.

Revue Neurologique, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."