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
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
Giugliano T et al.
Genes, 2019
Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1.
Jang MA et al.
Journal of Human Genetics, 2016
Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.
Evans DG et al.
Ebiomedicine, 2016
A highly sensitive genetic protocol to detect NF1 mutations.
Valero MC et al.
The Journal of Molecular Diagnostics : Jmd, 2011
Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing.
Brinckmann A et al.
Electrophoresis, 2007
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