Associated Papers
Genomic and clinical characterization of pediatric lymphoepithelioma-like carcinoma.
Que Y et al.
Journal of Translational Medicine, 2024
39633439 (PubMed )
Supplement: 12967_2024_5921_MOESM7_ESM.xlsx › 11newmerge
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
A novel mutation of keratin 5 in epidermolysis bullosa simplex with migratory circinate erythema.
Yalici-Armagan B et al.
Pediatric Dermatology, 2020
Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.
Karageorgos I et al.
Human Genomics, 2015
26092435 (PubMed )
Supplement: 40246_2015_34_MOESM1_ESM.xlsx › FamilyB
Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure.
Jerábková B et al.
The British Journal of Dermatology, 2010
Epidermolysis bullosa simplex due to KRT5 mutations: mutation-related differences in cellular fragility and the protective effects of trimethylamine N-oxide in cultured primary keratinocytes.
Chamcheu JC et al.
The British Journal of Dermatology, 2010
New common variants affecting susceptibility to basal cell carcinoma.
Stacey SN et al.
Nature Genetics, 2009
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