Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.L35del1
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LMNA

NM_170707.4:p.L35del1

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

Cardiovascular Involvement in Pediatric Laminopathies. Report of Six Patients and Literature Revision.

Baban A et al.

Frontiers in Pediatrics, 2020

Up-regulation of Toll-like receptors 7 and 9 and its potential implications in the pathogenic mechanisms of LMNA-related myopathies.

Cappelletti C et al.

Nucleus (austin, Tex.), 2018

Novel mutations in LMNA A/C gene and associated phenotypes.

Petillo R et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2015

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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."