Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.Q5*
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PLEC

NM_201384.3:p.Q5*

Associated Papers

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

Vahidnezhad H et al.

Human Mutation, 2022

Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases.

Yu Y et al.

Acta Dermato-venereologica, 2021

Genetic Modifiers of Hereditary Neuromuscular Disorders and Cardiomyopathy.

Bazrafshan S et al.

Cells, 2021

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