Associated Papers
Enhanced Comprehension of the Pathogenicity of Splicing Variants: Evidence from a Range of in Vitro and in Vivo Functional Assays.
Xu Y et al.
The Journal of Molecular Diagnostics : Jmd, 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: Two Novel Variants and Milder Phenotype in a Chinese Patient.
Zhang XY et al.
Human Mutation, 2024
Genetic Spectrum of Congenital Anomalies of the Kidney and Urinary Tract in Chinese Newborn Genome Project.
Huang Z et al.
Kidney International Reports, 2023
38025242 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S2
The Swedish COG6-CDG experience and a comprehensive literature review.
Xia ZJ et al.
Jimd Reports, 2023
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