Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.E105delins
Back to variants list

LMNA

NM_170707.4:p.E105delins

Associated Papers

Clinical and metabolic consequences of a historic pathogenic lamin A/C founder variant.

Wong LY et al.

Scientific Reports, 2025

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

Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants.

van Tienen FHJ et al.

European Journal of Human Genetics : Ejhg, 2019

Clinical Phenotype and Genotype Associations With Improvement in Left Ventricular Function in Dilated Cardiomyopathy.

Verdonschot JAJ et al.

Circulation. Heart Failure, 2018

30571196 (PubMed )
Supplement: circhf_circhf-2018-005220_supp1.pdf
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."