Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.Q15*
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LMNA

NM_170707.4:p.Q15*

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

Pregnancy and Progression of Cardiomyopathy in Women With LMNA Genotype-Positive.

Castrini AI et al.

Journal of the American Heart Association, 2022

35434999 (PubMed )
Supplement: JAH3-11-e024960-s001.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

Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers.

Nishiuchi S et al.

Circulation. Cardiovascular Genetics, 2017

Phenotypic intermediate forms overlapping to Emery-Dreifuss and limb girdle muscular dystrophies caused by lamin A/C gene mutations.

Albuquerque MA et al.

Pediatric Neurology, 2014

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."