Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.D272_N273Fs
Back to variants list

LMNA

NM_170707.4:p.D272_N273Fs

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

Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'.

Atalaia A et al.

Journal of Neuromuscular Diseases, 2021

33682723 (PubMed )
Supplement: jnd-8-jnd200596-s001.xlsx › LMNA

Reevaluating the Mutation Classification in Genetic Studies of Bradycardia Using ACMG/AMP Variant Classification Framework.

Cheng L et al.

International Journal of Genomics, 2020

The Broad Spectrum of LMNA Cardiac Diseases: From Molecular Mechanisms to Clinical Phenotype.

Crasto S et al.

Frontiers in Physiology, 2020

Characteristics of ventricular tachycardia and long-term treatment outcome in patients with dilated cardiomyopathy complicated by lamin A/C gene mutations.

Hasebe Y et al.

Journal of Cardiology, 2019

Familial accumulation of sudden cardiac deaths and the LMNA variant c.868G>A (p.Glu290Lys).

Finsterer J et al.

International Journal of Cardiology, 2016

Lamin A/C gene mutations in familial cardiomyopathy with advanced atrioventricular block and arrhythmia.

Saga A et al.

The Tohoku Journal of Experimental Medicine, 2009

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
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."