Associated Papers
Deep learning-based assessment of missense variants in the COG4 gene presented with bilateral congenital cataract.
Xiao B et al.
Bmj Open Ophthalmology, 2025
Getting Sugar Coating Right! The Role of the Golgi Trafficking Machinery in Glycosylation.
D'Souza Z et al.
Cells, 2021
Golgi inCOGnito: From vesicle tethering to human disease.
D'Souza Z et al.
Biochimica Et Biophysica Acta. General Subjects, 2020
Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation.
Linders PTA et al.
International Journal of Molecular Sciences, 2020
Hypothesis: lobe A (COG1-4)-CDG causes a more severe phenotype than lobe B (COG5-8)-CDG.
Haijes HA et al.
Journal of Medical Genetics, 2018
Identification of the first COG-CDG patient of Indian origin.
Ng BG et al.
Molecular Genetics and Metabolism, 2011
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