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De Novo Missense Variants in RRAGC Lead to a Fatal Mtoropathy of Early Childhood

Margot R. F. Reijnders,Annette Seibt,Melanie Brugger,Ideke J. C. Lamers,Torsten Ott,Oliver Klaas,Judit Horvath,Ailsa M. S. Rose,Isabel M. Craghill,Theresa Brunet,Elisabeth Graf,Katharina Mayerhanser,Debby Hellebrekers,David Pauck,Eva Neuen-Jacob,Richard J. T. Rodenburg,Dagmar Wieczorek,Dirk Klee,Ertan Mayatepek,Gertjan Driessen, Robert Bindermann,Luisa Averdunk,Klaus Lohmeier,Margje Sinnema,Alexander P. A. Stegmann,Ronald Roepman,James A. Poulter,Felix Distelmaier

GENETICS IN MEDICINE（2023）

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关键词
Cardiomyopathy,Cortical malformation,Heart,Lysosome,Mitochondrial,mTORopathy
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