Associated Papers
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
Re-evaluation of missense variant classifications in NF2.
Sadler KV et al.
Human Mutation, 2022
35332608 (PubMed )
Supplement: HUMU-43-643-s001.xlsx › Sheet1
Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing.
Evans DG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
In Silico Analysis of NF2 Gene Missense Mutations in Neurofibromatosis Type 2: From Genotype to Phenotype.
Heineman TE et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2015
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