Associated Papers
Re-evaluation of missense variant classifications in NF2.
Sadler KV et al.
Human Mutation, 2022
35332608 (PubMed )
Supplement: HUMU-43-643-s001.xlsx › Sheet1
Prediction and evaluation of deleterious and disease causing non-synonymous SNPs (nsSNPs) in human NF2 gene responsible for neurofibromatosis type 2 (NF2).
Havranek B et al.
Journal of Biomolecular Structure & Dynamics, 2021
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
Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings.
Ahronowitz I et al.
Human Mutation, 2007
Structural basis for neurofibromatosis type 2. Crystal structure of the merlin FERM domain.
Shimizu T et al.
The Journal of Biological Chemistry, 2002
The structure of the FERM domain of merlin, the neurofibromatosis type 2 gene product.
Kang BS et al.
Acta Crystallographica. Section D, Biological Crystallography, 2002
The 2.7 A crystal structure of the activated FERM domain of moesin: an analysis of structural changes on activation.
Edwards SD et al.
Biochemistry, 2001
Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.
Evans DG et al.
Journal of Medical Genetics, 1998
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