Associated Papers
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
Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I.
Leier A et al.
Molecular Therapy. Nucleic Acids, 2022
35433111 (PubMed )
Supplement: mmc1.pdf
Comparison of In Silico Tools for Splice-Altering Variant Prediction Using Established Spliceogenic Variants: An End-User's Point of View.
Jang W et al.
International Journal of Genomics, 2022
36275637 (PubMed )
Supplement: 5265686.f1.docx
Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients.
Bianchessi D et al.
Genes, 2020
AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides.
Wimmer K et al.
Human Mutation, 2020
32126153 (PubMed )
Supplement: HUMU-41-1145-s001.xlsx › Suppl._Table_S1
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