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
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › NF1
In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification.
Accetturo M et al.
International Journal of Molecular Sciences, 2020
31979111 (PubMed )
Supplement: ijms-21-00721-s001.zip › ijms-614345-supplementary_files › Supplementary_Table_S3.xlsx › Suppl._Table_S3
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
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.
Nemethova M et al.
Annals of Human Genetics, 2013
Select a paper to view details