Varaico: Literature-Extracted Genetic Variants

Gene:COG6
Variant:p.M582_V583Splc
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COG6

NM_020751.3:p.M582_V583Splc

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

The Swedish COG6-CDG experience and a comprehensive literature review.

Xia ZJ et al.

Jimd Reports, 2023

Getting Sugar Coating Right! The Role of the Golgi Trafficking Machinery in Glycosylation.

D'Souza Z et al.

Cells, 2021

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

Golgi inCOGnito: From vesicle tethering to human disease.

D'Souza Z et al.

Biochimica Et Biophysica Acta. General Subjects, 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

Key features and clinical variability of COG6-CDG.

Rymen D et al.

Molecular Genetics and Metabolism, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."