Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.D596N
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LMNA

NM_170707.4:p.D596N

Associated Papers

Liquid-liquid phase separation of lamin drives altered chromatin organization in cardiomyopathic mutations of lamin A.

Nath S et al.

Nucleic Acids Research, 2025

A case of arrhythmic cardiomyopathy caused by rare multiple gene mutations.

Liang K et al.

Frontiers in Cardiovascular Medicine, 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

Effect of Occurrence of Lamin A/C (LMNA) Genetic Variants in a Cohort of 101 Consecutive Apparent "Lone AF" Patients: Results and Insights.

Pessente GD et al.

Frontiers in Cardiovascular Medicine, 2022

35449878 (PubMed )
Supplement: Data_Sheet_1.PDF

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

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

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.

Madej-Pilarczyk A et al.

Folia Neuropathologica, 2016

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

Hong G et al.

Journal of Genetics, 2014

Linker of nucleoskeleton and cytoskeleton complex proteins in cardiac structure, function, and disease.

Stroud MJ et al.

Circulation Research, 2014

Nuclear envelope: connecting structural genome organization to regulation of gene expression.

Stancheva I et al.

Advances in Experimental Medicine and Biology, 2014

Altered chromosomal positioning, compaction, and gene expression with a lamin A/C gene mutation.

Mewborn SK et al.

Plos One, 2010

A novel mutation in limb girdle muscular dystrophy.

Correa M et al.

Puerto Rico Health Sciences Journal, 2007

Nuclear envelope defects in muscular dystrophy.

Roux KJ et al.

Biochimica Et Biophysica Acta, 2007

Gene expression, chromosome position and lamin A/C mutations.

Puckelwartz MJ et al.

Nucleus (austin, Tex.), 0

The nuclear envelope as a chromatin organizer.

Zuleger N et al.

Nucleus (austin, Tex.), 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."