Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.Q2319*
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PLEC

NM_201378.4:p.Q2319*

Associated Papers

Mutation update: The spectra of PLEC sequence variants and related plectinopathies.

Vahidnezhad H et al.

Human Mutation, 2022

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

Mroczek M et al.

Genes, 2020

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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