Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.R584C
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LMNA

NM_170707.4:p.R584C

Associated Papers

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

Hwang M et al.

International Journal of Molecular Sciences, 2026

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.

McGurk KA et al.

American Journal of Human Genetics, 2023

37652022 (PubMed )
Supplement: mmc3.xlsx › Table_S9

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

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S3

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

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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."