Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.K270_L271Splc
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LMNA

NM_170707.4:p.K270_L271Splc

Associated Papers

The structure and function of lamin A/C: Special focus on cardiomyopathy and therapeutic interventions.

Tiwari V et al.

Life Sciences, 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

A splicing LMNA mutation causing laminopathies accompanied by aortic valve malformation.

Tao J et al.

Journal of Clinical Laboratory Analysis, 2021

A Young Patient with Emery-Dreifuss Muscular Dystrophy Treated with Endovascular Therapy for Cardioembolic Stroke: A Case Report.

Homma K et al.

The Tokai Journal of Experimental and Clinical Medicine, 2018

Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies.

Lu C et al.

Journal of Translational Medicine, 2018

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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."