Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.E460_D461Splc
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LMNA

NM_170707.4:p.E460_D461Splc

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

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.

Madej-Pilarczyk A et al.

Folia Neuropathologica, 2016

Normal and aberrant splicing of LMNA.

Luo YB et al.

Journal of Medical Genetics, 2014

Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.

Scharner J et al.

Human Mutation, 2011

Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy.

Méjat A et al.

The Journal of Cell Biology, 2009

19124654 (PubMed )
Supplement: jcb.200811035_1.pdf
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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."