Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence

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

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    Neuroscience

    Biochemistry, Genetics and Molecular Biology