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A novel c.2326G>A KIT pathogenic variant in piebaldism
Introduction: Piebaldism is a rare autosomal dominant disorder characterized by congenital patchy depigmentation of the scalp, forehead, trunk, and limbs. The KIT gene is the mainly causative gene to this disease. But how KIT is involved in piebaldism remains unclear. Methods: Whole exome sequencing...
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| Udgivet i: | Am J Transl Res |
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| Main Authors: | , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
e-Century Publishing Corporation
2020
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7653609/ https://ncbi.nlm.nih.gov/pubmed/33194047 |
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