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Identifying six single nucleotide variants in the COL17A1 gene that alter RNA splicing: database analysis and minigene assays

Abstract Collagen type XVII alpha 1 chain (COL17A1) is a protein in the collagen family crucial for maintaining the integrity of skin and epithelial tissues. It is also vital for enamel formation and plays a significant role in the differentiation of ameloblasts. Many studies have indicated that sin...

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Principais autores: Yingfei Shao, Ran Zhang
פורמט: Artigo
שפה:Inglês
יצא לאור: Nature Portfolio 2025-04-01
סדרה:Scientific Reports
נושאים:
COL17A1
Amelogenesis imperfecta
Junctional epidermolysis Bullosa
Minigene analysis
Single nucleotide variants
גישה מקוונת:https://doi.org/10.1038/s41598-025-95851-9
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