Hasil Pencarian - Beryl B Cummings

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  1. 1
    Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

    Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes oleh Qingbo Wang, Emma Pierce-Hoffman, Beryl B. Cummings, Jessica Alföldi, Laurent C. Francioli, Laura D. Gauthier, Andrew J. Hill, Anne H. O’Donnell-Luria, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Konrad J. Karczewski, Daniel G. MacArthur

    Diterbitkan 2020-05-01
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  2. 2
    Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

    Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes oleh Qingbo Wang, Emma Pierce-Hoffman, Beryl B. Cummings, Jessica Alföldi, Laurent C. Francioli, Laura D. Gauthier, Andrew J. Hill, Anne H. O’Donnell-Luria, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Konrad J. Karczewski, Daniel G. MacArthur

    Diterbitkan 2021-02-01
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  3. 3
    BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy

    BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy oleh Sandra Donkervoort, Niklas Krause, Mykola Dergai, Pomi Yun, Judith Koliwer, Svetlana Gorokhova, Janelle Geist Hauserman, Beryl B Cummings, Ying Hu, Rosemarie Smith, Prech Uapinyoying, Vijay S Ganesh, Partha S Ghosh, Kristin G Monaghan, Seby L Edassery, Pia E Ferle, Sarah Silverstein, Katherine R Chao, Molly Snyder, Sara Ellingwood, Diana Bharucha‐Goebel, Susan T Iannaccone, Matteo Dal Peraro, A Reghan Foley, Jeffrey N Savas, Véronique Bolduc, Dirk Fasshauer, Carsten G Bönnemann, Michael Schwake

    Diterbitkan 2021-12-01
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