R
R. Weksberg
Publications - 1
Citations - 248
R. Weksberg is an academic researcher. The author has contributed to research in topics: Genotype & Neurofibromatosis type 2. The author has an hindex of 1, co-authored 1 publications receiving 238 citations.
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Journal Article
Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease.
M. H. Ruttledge,Anne Andermann,C. M. Phelan,J. O. Claudio,Fei-Yu Han,N. Chretien,S. Rangaratnam,Mia MacCollin,P. Short,Dilys M. Parry,V. Michels,V. M. Riccardi,R. Weksberg,Ken Kitamura,J. M. Bradburn,Bryan D. Hall,P. Propping,Guy A. Rouleau +17 more
TL;DR: Clinical data provide conclusive evidence that a phenotype/genotype correlation exists for certain NF2 mutations, and when individuals harboring protein-truncating mutations are compared with cases with single codon alterations, a significant correlation with clinical outcome is observed.