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pro vyhledávání: '"Amr H. Wardeh"'
Autor:
Amr H. Wardeh, Ying S. Hu, Catarina B. Manney, Alan R. Shuldiner, Joseph B. Leader, Janet L. Williams, David J. Carey, Toni I. Pollin, Jeffrey Staples, Jessica M. Goehringer, Uyenlinh L. Mirshahi
Publikováno v:
Diabetes. 68
Maturity onset diabetes of the young (MODY) is a monogenic form of diabetes attributed to a highly penetrant variant in one of several genes, including GCK. GCK-MODY rarely requires pharmacotherapy, however, the clinical management of pregnant mother
Autor:
Kandamurugu Manickam, Uyenlinh L. Mirshahi, Jonathan Z. Luo, Tooraj Mirshahi, Amr H. Wardeh, David J. Carey, Michael F. Murray
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 21(6)
Precision health initiatives and reduced sequencing costs are driving large-scale human genome analyses. Genetic variant curation is a bottleneck in clinical applications. The burden of variant curation can be high for newly discovered variants becau