Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.W520G
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LMNA

NM_170707.4:p.W520G

Associated Papers

Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.

Kliche J et al.

Molecular Systems Biology, 2024

39009827 (PubMed )
Supplement: 44320_2024_55_MOESM5_ESM.xlsx › A-binding_peptides

Creatine and L-carnitine attenuate muscular laminopathy in the LMNA mutation transgenic zebrafish.

Pan SW 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

Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.

Anderson CL et al.

Npj Genomic Medicine, 2021

34862408 (PubMed )
Supplement: 41525_2021_265_MOESM1_ESM.pdf

LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes.

Florwick A et al.

Frontiers in Genetics, 2017

28663758 (PubMed )
Supplement: Table_2.XLSX › Sheet1

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.

Madej-Pilarczyk A et al.

Folia Neuropathologica, 2016

First report of a novel LMNA mutation in a Chinese family with limb-girdle muscular dystrophy.

Hong G et al.

Journal of Genetics, 2014

Cardioembolic stroke related to limb-girdle muscular dystrophy 1B.

Chen CH et al.

Bmc Research Notes, 2013

Novel LMNA mutation in a Taiwanese family with autosomal dominant Emery-Dreifuss muscular dystrophy.

Liang WC et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2007

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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."