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  1. No Access

    Article

    Disseminated Pneumocystis jirovecii Infection with Osteomyelitis in a Patient with CTLA-4 Haploinsufficiency

    Aminaa E. Siddiqi, Anne Y. Liu, Gregory W. Charville… in Journal of Clinical Immunology (2020)

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    Article

    Multiplex assessment of protein variant abundance by massively parallel sequencing

    Determining the pathogenicity of genetic variants is a critical challenge, and functional assessment is often the only option. Experimentally characterizing millions of possible missense variants in thousands ...

    Kenneth A. Matreyek, Lea M. Starita, Jason J. Stephany, Beth Martin… in Nature Genetics (2018)