Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.S149_T150insFs
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LMNA

NM_170707.4:p.S149_T150insFs

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

Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'.

Atalaia A et al.

Journal of Neuromuscular Diseases, 2021

33682723 (PubMed )
Supplement: jnd-8-jnd200596-s002.xlsx › Sheet1

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF et al.

American Journal of Human Genetics, 2019

30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.

Madej-Pilarczyk A et al.

Folia Neuropathologica, 2016

Defects in cell spreading and ERK1/2 activation in fibroblasts with lamin A/C mutations.

Emerson LJ et al.

Biochimica Et Biophysica Acta, 2009

Myofiber degeneration in autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) (LGMD1B).

Mittelbronn M et al.

Brain Pathology (zurich, Switzerland), 2006

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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."