Associated Papers
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › NF1
Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio).
Savarese M et al.
Journal of Neuromuscular Diseases, 2020
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
Giugliano T et al.
Genes, 2019
Effects of splicing mutations on NF2-transcripts: transcript analysis and information theoretic predictions.
Ellis JR et al.
Genes, Chromosomes & Cancer, 2011
Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.
Pros E et al.
Human Mutation, 2008
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