Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.E2387*
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PLEC

NM_000445.5:p.E2387*

Associated Papers

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

Vahidnezhad H et al.

Human Mutation, 2022

Muscle-Related Plectinopathies.

Zrelski MM et al.

Cells, 2021

A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report.

Argyropoulou Z et al.

Bmc Dermatology, 2018

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