Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.E33del1
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LMNA

NM_170707.4:p.E33del1

Associated Papers

Optimized simple culture protocol for inducing mature myotubes from MYOD1-overexpressed human iPS cells.

Wada E et al.

Scientific Reports, 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

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

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.

Parry DA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Distinct Fiber Type Signature in Mouse Muscles Expressing a Mutant Lamin A Responsible for Congenital Muscular Dystrophy in a Patient.

Barateau A et al.

Cells, 2017

Congenital fiber type disproportion myopathy caused by LMNA mutations.

Kajino S et al.

Journal of the Neurological Sciences, 2014

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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."