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Identification of a Novel NF1 Frameshift Variant in a Chinese Family with Neurofibromatosis Type 1

Neurofibromatosis type 1 (NF1) is a progressive neurocutaneous disorder in humans, mainly characterized by café-au-lait macules (CALMs) and neurofibromas. NF1 is caused by variants of the neurofibromin 1 gene (NF1), which encodes a Ras-GTPase-activating protein called neurofibromin. NF1 variants may...

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Detalles Bibliográficos
Autores principales:	Xu, Guoyao, Li, Ming, Niu, Youya, Huang, Xueshuang, Li, Yanchun, Tang, Genyun, Long, Sha, Zhao, Hui, Jiang, Haiou
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2019
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925767/ https://www.ncbi.nlm.nih.gov/pubmed/31886188 http://dx.doi.org/10.1155/2019/2721357

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