Associated Papers
Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants.
Ha C et al.
Genes, 2021
34573290 (PubMed )
Supplement: genes-12-01308-s001.zip › Table_S1.xlsx › NF1_Variants
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1.
Assunto A et al.
Orphanet Journal of Rare Diseases, 2019
31730495 (PubMed )
Supplement: 13023_2019_1223_MOESM1_ESM.doc
Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing.
Xu W et al.
International Journal of Molecular Medicine, 2014
Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas.
Thomas L et al.
European Journal of Human Genetics : Ejhg, 2012
Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.
Laycock-van Spyk S et al.
Human Genomics, 2011
Somatic mutation analysis in NF1 café au lait spots reveals two NF1 hits in the melanocytes.
De Schepper S et al.
The Journal of Investigative Dermatology, 2008
Comprehensive NF1 screening on cultured Schwann cells from neurofibromas.
Maertens O et al.
Human Mutation, 2006
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.
Mattocks C et al.
Journal of Medical Genetics, 2004
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