Interpreting missense variants: comparing computational methods in human disease genesCDKN2A,MLH1,MSH2,MECP2, and tyrosinase (TYR)

Author:

Chan Philip A.,Duraisamy Sekhar,Miller Peter J.,Newell Joan A.,McBride Carole,Bond Jeffrey P.,Raevaara Tiina,Ollila Saara,Nyström Minna,Grimm Andrew J.,Christodoulou John,Oetting William S.,Greenblatt Marc S.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference49 articles.

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2. Point mutations can inactivate in vitro and in vivo activities of p16(INK4a)/CDKN2A in human glioma;Arap;Oncogene,1997

3. Sequence variation in G-protein-coupled receptors: analysis of single nucleotide polymorphisms;Balasubramanian;Nucleic Acids Res,2005

4. Prediction of the phenotypic effects of non-synonymous single nucleotide polymorphisms using structural and evolutionary information;Bao;Bioinformatics,2005

5. Functional impairment of melanoma-associated p16(INK4a) mutants in melanoma cells despite retention of cyclin-dependent kinase 4 binding;Becker;Clin Cancer Res,2001

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