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机译:轻微的甘氨酸脑病(NKH)在一个大的家族由于沉默其实GLDC拼接突变。
Zusman Child Development Center, Pediatric Division, Soroka University Medical Center and Ben-Gurion University of the Negev, Beer Sheva, Israel.;
Centre for Research on Introduced Marine Pests(CRIMP), CSIRO Marine Research, GPO Box 1538, Hobart Tasmania 7001, Australia;
kindred; Nonketotic Hyperglycinemia; ExonsEncephalopathyMutationFavorable Clinical OutcomeNOT OTHERWISE SPECIFIEDLymphoblastmoderate mental retardation;