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Article

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

BioMed research international - 1 Jan 2019

Xu Guoyao, Li Ming, Niu Youya, Huang Xueshuang, Li Yanchun, Tang Genyun, Long Sha, Zhao Hui, Jiang Haiou

Abstract excerpt

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 result in loss of neurofibromin function and elevation of cell proliferation and tumor formation. In this study, a...

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Identifiers

PMID: 31886188
DOI: 10.1155/2019/2721357
PMCID: PMC6925767

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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