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
Developing a disease-specific annotation protocol for VHL gene curation using Hypothes.is.
Salehipour D et al.
Database : the Journal of Biological Databases and Curation, 2023
36617168 (PubMed )
Supplement: baac109_supp.zip › suppl_data › Supplementary_Material_and_Methods.docx
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
Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis.
Wu-Chou YH et al.
Journal of Biomedical Science, 2018
Mutation screening in a Norwegian cohort with pheochromocytoma.
Sjursen W et al.
Familial Cancer, 2013
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