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TÍTULO: Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence  Full Text
AUTORES: Elaine A Dunlop; Kayleigh M Dodd; Stephen C Land; Peter A Davies; Nicole Martins; Helen Stuart; Shane McKee; Chris Kingswood; Anand Saggar; Isabel Corderio; Ana Maria Duarte Medeira; Helen Kingston; Julian R Sampson; David Mark Davies; Andrew R Tee;
PUBLICAÇÃO: 2011, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 19, NÚMERO: 7
INDEXADO EM: Scopus WOS CrossRef