Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.E384G
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LMNA

NM_170707.4:p.E384G

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

Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients.

Fan Y et al.

Journal of Medical Genetics, 2021

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

Baban A et al.

Frontiers in Pediatrics, 2020

Muscle Magnetic Resonance Imaging in Patients with Various Clinical Subtypes of LMNA-Related Muscular Dystrophy.

Lin HT et al.

Chinese Medical Journal, 2018

Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy.

Tan D et al.

Plos One, 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."