Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.R582L
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LMNA

NM_170707.4:p.R582L

Associated Papers

Familial Generalized and Partial Lipodystrophies Due to Rare Biallelic Variants in LMNA.

Hwang M et al.

International Journal of Molecular Sciences, 2026

Altered lipid metabolism and inflammatory programs associate with adipocyte loss in familial partial lipodystrophy 2.

Maung JN et al.

The Journal of Clinical Investigation, 2026

Identification and characterization of a case of mild familial partial lipodystrophy in a carrier of a LMNA p.Arg582Leu variant.

Barile AM et al.

Acta Diabetologica, 2025

Genetics and cancer-related Laminopathies: Involvement of Lamins and Lamin-Chromatin Interactions.

Desgrouas C et al.

Sub-cellular Biochemistry, 2025

Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review.

Besci O et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

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

ZMPSTE24 Is Associated with Elevated Inflammation and Progerin mRNA.

Messner M et al.

Cells, 2020

Molecular and Mechanobiological Pathways Related to the Physiopathology of FPLD2.

Varlet AA et al.

Cells, 2020

Unraveling LMNA Mutations in Metabolic Syndrome: Cellular Phenotype and Clinical Pitfalls.

Desgrouas C et al.

Cells, 2020

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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."