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Article

Phenotypic heterogeneity of neurofibromatosis type 1 in a large international registry.

JCI insight - 20 Aug 2020

Tabata Mika M, Li Shufeng, Knight Pamela, Bakker Annette, Sarin Kavita Y

Abstract excerpt

Neurofibromatosis type 1 (NF1) is a rare genetic disorder, characterized by the development of benign and malignant nerve tumors. Although all individuals with NF1 harbor genetic alterations in the same gene, the clinical manifestations of NF1 are extremely heterogeneous even among individuals who carry identical genetic defects. In order to deepen the understanding of phenotypic manifestations in NF1, we...

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Identifiers

PMID: 32814709
DOI: 10.1172/jci.insight.136262
PMCID: PMC7455126

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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