Associated Papers
Molecular and Clinical Profiles of Patients with RASopathies: Targeted Next-Generation Sequencing Panel Results and Identification of 14 Novel Disease-Causing Variants.
Ates K et al.
Molecular Syndromology, 2025
A novel synonymous variant in the NF1 gene disrupting splicing contributes to neurofibromatosis pathogenesis.
Lin T et al.
Frontiers in Genetics, 2025
Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.
Melloni G et al.
Cancers, 2019
Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1.
Corsello G et al.
Italian Journal of Pediatrics, 2018
Hybridization Capture-Based Next-Generation Sequencing to Evaluate Coding Sequence and Deep Intronic Mutations in the NF1 Gene.
Cunha KS et al.
Genes, 2016
Pre-mRNA splicing aberrations and cancer.
Pettigrew CA et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2008
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