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

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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Bibliographic Details
Main Authors:	Guoyao Xu, Ming Li, Youya Niu, Xueshuang Huang, Yanchun Li, Genyun Tang, Sha Long, Hui Zhao, Haiou Jiang
Format:	Article
Language:	English
Published:	Hindawi Limited 2019-01-01
Series:	BioMed Research International
Online Access:	http://dx.doi.org/10.1155/2019/2721357

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