Associated Papers
Long-read sequencing for NF1 gene analysis: enhancing diagnostic accuracy for Neurofibromatosis type 1.
Zheng Y et al.
Human Molecular Genetics, 2025
40719757 (PubMed )
Supplement: supplemental-tabless1-4_clean_ddaf108.xlsx › Table-S1-All_samples
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
Oncologist uptake of comprehensive genomic profile guided targeted therapy.
Nesline MK et al.
Oncotarget, 2019
31384390 (PubMed )
Supplement: oncotarget-10-4616-s003.xlsx › TblS2TargetedTherapyDecisions
Alternative lengthening of telomeres, ATRX loss and H3-K27M mutations in histologically defined pilocytic astrocytoma with anaplasia.
Rodriguez FJ et al.
Brain Pathology (zurich, Switzerland), 2019
Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH.
Garcia-Linares C et al.
Human Mutation, 2011
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