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Paper Details

A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
8
2021
CK, Drosophila, Drpr, JAG1, JAG2, JAG2 variants, Jag2, Jagged2, Jagged2 missense variants, MEGF10, Megf10, Notch, Notch ligand, PAX7, POGLUT1, Serrate, amino acids, bi, creatine, creatine kinase, dystrophic, in-frame deletion, murine myoblasts, muscle tissue, muscle weakness, muscular dystrophy, participants, skeletal muscle
Author NameAffiliation
Eleina EnglandBroad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, USA Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston Children's Hospital, Harvard Medical School
Ben WeisburdBroad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, USA Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital
Ben WeisburdBroad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, USA Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital
Anne O'Donnell-LuriaBroad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, USA Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston Children's Hospital, Harvard Medical School
Anne O'Donnell-LuriaBroad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, USA Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston Children's Hospital, Harvard Medical School
Eric W KleeCenter for Individualized Medicine, Mayo Clinic
Volker StraubJohn Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust
Glenn A WalterUniversity of Florida College of Medicine
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