Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.E203_K208del6
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LMNA

NM_170707.4:p.E203_K208del6

Associated Papers

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.

Madej-Pilarczyk A et al.

Folia Neuropathologica, 2016

Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy.

Quarta G et al.

European Heart Journal, 2012

Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.

Captur G et al.

Open Heart, 0

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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."