Associated Papers
Genetic analysis of 25 Chinese pedigrees with neurofibromatosis type 1 and genotype-phenotype study from an extended cohort.
Fei H et al.
Orphanet Journal of Rare Diseases, 2025
40410838 (PubMed )
Supplement: 13023_2025_3807_MOESM1_ESM.xlsx › Supplementary_Table_2
Identification of Mutation Regions on NF1 Responsible for High- and Low-Risk Development of Optic Pathway Glioma in Neurofibromatosis Type I.
Xu M et al.
Frontiers in Genetics, 2018
30087692 (PubMed )
Supplement: Table_1.XLSX › ____
Children with 5'-end NF1 gene mutations are more likely to have glioma.
Anastasaki C et al.
Neurology. Genetics, 2017
28955729 (PubMed )
Supplement: supp_3.5.e192_NG_2017_005934R1_Supplementary_Data.pdf
No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.
Hutter S et al.
Human Genetics, 2016
Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.
Fahsold R et al.
American Journal of Human Genetics, 2000
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