Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.L3527L
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PLEC

NM_201384.3:p.L3527L

Associated Papers

Missense and Inframe Pathogenic Variants in PLEC Lead to Minimal or Delayed-Onset Muscular Dystrophy in Autosomal Recessive Epidermolysis Bullosa Simplex: A Genotype-Phenotype Correlation in Nine Cases.

Yang MC et al.

The Journal of Dermatology, 2025

Identification and Computational Analysis of Novel Pathogenic Variants in Pakistani Families with Diverse Epidermolysis Bullosa Phenotypes.

Khan FF et al.

Biomolecules, 2021

Plectin-related skin diseases.

Natsuga K

Journal of Dermatological Science, 2015

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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."