Article

RENOVO-NF1 accurately predicts NF1 missense variant pathogenicity

2025-01-06

Abstract excerpt

The identification of a pathogenic variant in the NF1 gene is an important step in the diagnosis of the tumor-predisposing and developmental syndrome neurofibromatosis, and is increasingly important in the characterization of sporadic tumors, in which NF1 loss identifies specific biologic subtypes. However, NF1 variant interpretation is complicated by multiple factors including allelic heterogeneity, sequence homo...

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Literature Corpus work: 1384137f-330f-5ae5-8750-cce5a2ef7530
DOI: 10.1101/2025.01.06.25320039

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