Associated Papers
COG Complex in Golgi Trafficking and Glycosylation.
Sumya FT et al.
Sub-cellular Biochemistry, 2026
Insights Into the Pathological Glycosylation Associated With COG6-CDG.
Pakanová Z et al.
Human Mutation, 2025
41362306 (PubMed )
Supplement: 7948771.f11.xlsx › H_rok1
COG6-CDG: Novel variants and novel malformation.
Cirnigliaro L et al.
Birth Defects Research, 2022
Genetic analysis and prenatal diagnosis in a Chinese with growth retardation, abnormal liver function, and microcephaly.
Zhao P et al.
Molecular Genetics & Genomic Medicine, 2021
Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG.
Lugli L et al.
American Journal of Medical Genetics. Part A, 2021
Golgi inCOGnito: From vesicle tethering to human disease.
D'Souza Z et al.
Biochimica Et Biophysica Acta. General Subjects, 2020
Neonatal presentation of COG6-CDG with prominent skin phenotype.
Komlosi K et al.
Jimd Reports, 2020
Key features and clinical variability of COG6-CDG.
Rymen D et al.
Molecular Genetics and Metabolism, 2015
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