Associated Papers
RENOVO-NF1 accurately predicts NF1 missense variant pathogenicity.
Bonetti E et al.
Human Genomics, 2025
40887659 (PubMed )
Supplement: 40246_2025_803_MOESM3_ESM.xlsx › Sheet_1
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
Prospective Screening of Cancer Syndromes in Patients with Mesenchymal Tumors.
Öfverholm I et al.
Cancers, 2024
Novel AAV variants with improved tropism for human Schwann cells.
Drouyer M et al.
Molecular Therapy. Methods & Clinical Development, 2024
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
The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas.
Pemov A et al.
Oncogene, 2017
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