Associated Papers
A novel synonymous variant in the NF1 gene disrupting splicing contributes to neurofibromatosis pathogenesis.
Lin T et al.
Frontiers in Genetics, 2025
Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2 years experience of a single center.
Kocabey M et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2023
Splicing-Disrupting Mutations in Inherited Predisposition to Solid Pediatric Cancer.
Alba-Pavón P et al.
Cancers, 2022
Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression.
Kang E et al.
Orphanet Journal of Rare Diseases, 2022
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
Comprehensive genomic profiling for patients with chemotherapy-naïve advanced cancer.
Kondo T et al.
Cancer Science, 2021
33007138 (PubMed )
Supplement: CAS-112-296-s002.xlsx › Sheet1
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