Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.L102P
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LMNA

NM_170707.4:p.L102P

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

Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort.

Baskar D et al.

Journal of Neuromuscular Diseases, 2024

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

Case Reports: Emery-Dreifuss Muscular Dystrophy Presenting as a Heart Rhythm Disorders in Children.

Kovalchuk T et al.

Frontiers in Cardiovascular Medicine, 2021

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

Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients.

Mitsuhashi H et al.

Journal of Cell Science, 2010

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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."