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: | , |
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| Format: | Artigo |
| Sprog: | Inglês |
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Nature Portfolio
2025-04-01
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| Serier: | Scientific Reports |
| Fag: | |
| Online adgang: | https://doi.org/10.1038/s41598-025-95851-9 |
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