Varaico: Literature-Extracted Genetic Variants

Gene:COG1
Variant:p.G248Splc
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COG1

NM_018714.3:p.G248Splc

Associated Papers

COG Complex in Golgi Trafficking and Glycosylation.

Sumya FT et al.

Sub-cellular Biochemistry, 2026

Golgi function and dysfunction in the first COG4-deficient CDG type II patient.

Reynders E et al.

Human Molecular Genetics, 2009

19494034 (PubMed )
Supplement: ddp262_1.pdf
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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."