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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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Detalhes bibliográficos
Publicado no:Am J Transl Res
Main Authors: Shi, Weili, Yang, Ke, Sun, Yafei, Chu, Yan, Zhang, Yuwei, Hao, Bingtao, Liao, Shixiu
Formato: Artigo
Idioma:Inglês
Publicado em: e-Century Publishing Corporation 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7653609/
https://ncbi.nlm.nih.gov/pubmed/33194047
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