Associated Papers
Insights Into the Pathological Glycosylation Associated With COG6-CDG.
Pakanová Z et al.
Human Mutation, 2025
41362306 (PubMed )
Supplement: 7948771.f11.xlsx › H_rok1
The Swedish COG6-CDG experience and a comprehensive literature review.
Xia ZJ et al.
Jimd Reports, 2023
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
Congenital disorders of glycosylation: The Saudi experience.
Alsubhi S et al.
American Journal of Medical Genetics. Part A, 2017
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