Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.L2000L
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PLEC

NM_201378.4:p.L2000L

Associated Papers

Identifying Plectin Isoform Functions through Animal Models.

Castañón MJ et al.

Cells, 2021

No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy.

Hoorntje ET et al.

Plos One, 2018

30161220 (PubMed )
Supplement: pone.0203078.s002.xlsx › S2_Table

Plectin-related skin diseases.

Natsuga K

Journal of Dermatological Science, 2015

The many faces of plectin and plectinopathies: pathology and mechanisms.

Winter L et al.

Acta Neuropathologica, 2013

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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."