Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.M1_Q9del9
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PLEC

NM_201378.4:p.M1_Q9del9

Associated Papers

Identifying Plectin Isoform Functions through Animal Models.

Castañón MJ et al.

Cells, 2021

Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features.

Mroczek M et al.

Genes, 2020

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

Winter L et al.

Acta Neuropathologica, 2013

Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy.

Gundesli H et al.

American Journal of Human Genetics, 2010

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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."