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NF1 Gene Novel Splicing Mutations in a Chinese Family with Neurofibromatosis Type 1: Case Series

BACKGROUND: Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder. NF1 is a multisystemic disease and its pathogenesis involves mutations in the NF1 gene on chromosome 17q11.2 causing RAS overactivation to stimulate abnormal cell proliferation. PURPOSE: To identify pathogeni...

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Detalles Bibliográficos
Autores principales:	Wu, Ting, Yang, Hao, Xu, Liuli, Huang, Qing, He, Qi, Wu, Rong, Mu, Yun-Zhu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Dove 2022
Materias:	Case Series
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9635557/ https://www.ncbi.nlm.nih.gov/pubmed/36339945 http://dx.doi.org/10.2147/CCID.S388045

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