Varaico: Literature-Extracted Genetic Variants

Gene:ERBIN
Variant:p.E358K
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ERBIN

NM_001253697.2:p.E358K

Associated Papers

The effect of the lamin A and its mutants on nuclear structure, cell proliferation, protein stability, and mobility in embryonic cells.

Piekarowicz K et al.

Chromosoma, 2017

Systematic identification of pathological lamin A interactors.

Dittmer TA et al.

Molecular Biology of the Cell, 2014

Overlapping syndromes in laminopathies: a meta-analysis of the reported literature.

Carboni N et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2013

Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy.

Motsch I et al.

European Journal of Cell Biology, 2005

Effect of pathogenic mis-sense mutations in lamin A on its interaction with emerin in vivo.

Holt I et al.

Journal of Cell Science, 2003

Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.

Ostlund C et al.

Journal of Cell Science, 2001

Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.

Brown CA et al.

American Journal of Medical Genetics, 2001

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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."