Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.M1L
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PLEC

NM_201384.3:p.M1L

Associated Papers

Genetics of Darier's Disease: New Insights into Pathogenic Mechanisms.

Moschella B et al.

Genes, 2025

Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex.

Lee JYW et al.

The Journal of Investigative Dermatology, 2017

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.

Engel AG et al.

The Lancet. Neurology, 2015

Ebs1p, a negative regulator of gene expression controlled by the Upf proteins in the yeast Saccharomyces cerevisiae.

Ford AS et al.

Eukaryotic Cell, 2006

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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."