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Article

Protein domain-specific genotype-phenotype correlation study of neurofibromatosis type 1.

Scientific reports - 15 Dec 2025

Ou Min, Ho Strphanie Kl, Luk Ho-Ming, Cheng Shirley Sw, Lee Michael Man-Kit, Lam Tak-Wah, Lo Ivan Fai-Man, Luo Ruibang

Abstract excerpt

Neurofibromatosis type 1 (OMIM 613,113, NF1) is a neurocutaneous disorder caused by pathogenic genetic alteration in NF1 gene, which exhibits nearly full penetrance and affects multiple systems. Previously two association studies of optic pathway glioma and NF1 protein domains, derived from 215 and 381 patients, respectively, obtained contradicting results, reflecting different datasets can lead to different...

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Identifiers

PMID: 41398366
DOI: 10.1038/s41598-025-32422-y
PMCID: PMC12824372

Genes

NF1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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