Associated Papers
Defining the clinical spectrum and genotype-phenotype correlations for CCDC115-CDG: A patient report and review of the literature.
Geerts CJ et al.
Molecular Genetics and Metabolism, 2025
Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation.
Linders PTA et al.
International Journal of Molecular Sciences, 2020
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
Jansen JC et al.
American Journal of Human Genetics, 2016
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