Article
SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases.
Human mutation - 1 Feb 2010
Friedrich Anne, Garnier Nicolas, Gagnière Nicolas, Nguyen Hoan, Albou Laurent-Philippe, Biancalana Valérie, Bettler Emmanuel, Deléage Gilbert, Lecompte Odile, Muller Jean, Moras Dino, Mandel Jean-Louis, Toursel Thierry, Moulinier Luc, Poch Olivier
Abstract excerpt
Understanding how genetic alterations affect gene products at the molecular level represents a first step in the elucidation of the complex relationships between genotypic and phenotypic variations, and is thus a major challenge in the postgenomic era. Here, we present SM2PH-db (http://decrypthon.igbmc.fr/sm2ph), a new database designed to investigate structural and functional impacts of missense mutations and...
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