Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.A339E
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LMNA

NM_170707.4:p.A339E

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

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

Exercise is Associated With Impaired Left Ventricular Systolic Function in Patients With Lamin A/C Genotype.

Skjølsvik ET et al.

Journal of the American Heart Association, 2020

31957533 (PubMed )
Supplement: JAH3-9-e012937-s001.pdf

Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation.

Hasselberg NE et al.

European Heart Journal, 2018

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_1.XLSX › ExAC

Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.

Captur G et al.

Open Heart, 0

30402260 (PubMed )
Supplement: openhrt-2018-000915supp002.xlsx › gnomad_ENSG00000160789_2017_12_
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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."