Associated Papers
Genetic Alterations in Patients with NF2-Related Schwannomatosis and Sporadic Vestibular Schwannomas.
Douwes JPJ et al.
Cancers, 2025
39941762 (PubMed )
Supplement: cancers-17-00393-s001.zip › Table_S1-Patient_Characteristics___Genetics.xlsx › Genetics_-_Data
Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation.
Evans DG et al.
Journal of Medical Genetics, 2023
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 › NF2
A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene.
Contini E et al.
Plos One, 2015
[Phenotype-genotype study in 154 French NF2 mutation carriers].
Demange L et al.
Revue Neurologique, 2007
Mutation scanning of the NF2 gene: an improved service based on meta-PCR/sequencing, dosage analysis, and loss of heterozygosity analysis.
Wallace AJ et al.
Genetic Testing, 2004
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