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Article

Resolving variants of uncertain significance in neurofibromatosis: An integrated approach combining deep learning and minigene assays.

Functional & integrative genomics - 5 Jun 2026

Liu Fulin, Chenzhang Yuwei, Huang Jianmei, Jiang Qin, Liu Jinping, Yang Jiyun

Abstract excerpt

Neurofibromatosis (NF) comprises genetic disorders mainly caused by pathogenic variants, yet its phenotypic and genotypic heterogeneity complicates diagnosis. We analyzed clinical and genomic data from 97 NF patients using targeted panels, whole-exome sequencing (WES), and whole-genome sequencing (WGS) from June 2020 to October 2024. Variants were classified according to established guidelines, and their...

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PMID: 42247039
DOI: 10.1007/s10142-026-01896-y

Genes

NF1
LZTR1
NF2

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