Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.A428_G429del1
Back to variants list

PLEC

NM_201384.3:p.A428_G429del1

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."