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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Bibliographic Details
Main Authors: Yingfei Shao, Ran Zhang
Format: Article
Language:English
Published: Nature Portfolio 2025-04-01
Series:Scientific Reports
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Online Access:https://doi.org/10.1038/s41598-025-95851-9
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