Article
Classifying variants of CDKN2A using computational and laboratory studies.
Human mutation - 1 Aug 2011
Miller Peter J, Duraisamy Sekhar, Newell Joan A, Chan Philip A, Tie Mark M, Rogers Amy E, Ankuda Claire K, von Walstrom Genevieve M, Bond Jeffrey P, Greenblatt Marc S
Abstract excerpt
Variants in the CDKN2A tumor suppressor are associated with Familial Melanoma (FM), although for many variants the linkage is weak. The effects of missense variants on protein function and pathogenicity are often unclear. Multiple methods (e.g., laboratory, computational, epidemiological) have been developed to analyze whether a missense variant is pathogenic or not. It is not yet clear how to integrate these...
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