Associated Papers
Characteristics of Café-au-lait Macules and their Association with the Neurofibromatosis type I Genotype in a Cohort of Greek Children.
Nasi L et al.
Acta Dermato-venereologica, 2023
37272364 (PubMed )
Supplement: ActaDV-103-5758-s1.pdf
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
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
Distinct age-associated molecular profiles in acute myeloid leukemia defined by comprehensive clinical genomic profiling.
Tarlock K et al.
Oncotarget, 2018
29899868 (PubMed )
Supplement: oncotarget-09-26417-s005.xlsx › genomics
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