Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.M1I
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LMNA

NM_170707.4:p.M1I

Associated Papers

Genomic stop codon scanning reveals quantitative principles of nonsense-mediated mRNA decay.

Cortázar MA et al.

Biorxiv : the Preprint Server for Biology, 2025

41509423 (PubMed )
Supplement: media-2.xlsx › mRNA_expression

Modeling the contribution of cardiac fibroblasts in dilated cardiomyopathy using induced pluripotent stem cells.

Mazarura GR et al.

Molecular Pharmacology, 2025

Modulation of cytoskeleton in cardiomyopathy caused by mutations in LMNA gene.

Chatzifrangkeskou M et al.

American Journal of Physiology. Cell Physiology, 2023

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

PALB2 Variants: Protein Domains and Cancer Susceptibility.

Nepomuceno TC et al.

Trends in Cancer, 2021

Phenotypic Variability in iPSC-Induced Cardiomyocytes and Cardiac Fibroblasts Carrying Diverse LMNA Mutations.

Yang J et al.

Frontiers in Physiology, 2021

Emery-Dreifuss muscular dystrophy.

Heller SA et al.

Muscle & Nerve, 2020

31840275 (PubMed )
Supplement: MUS-61-436-s001.docx

Interplay of primary sequence, position and secondary RNA structure determines alternative splicing of LMNA in a pre-mature aging syndrome.

Shilo A et al.

Nucleic Acids Research, 2019

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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."