Varaico: Literature-Extracted Genetic Variants

Gene:COG7
Variant:p.Q145_D146Splc
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COG7

NM_153603.4:p.Q145_D146Splc

Associated Papers

COG Complex in Golgi Trafficking and Glycosylation.

Sumya FT et al.

Sub-cellular Biochemistry, 2026

Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation.

Zeevaert R et al.

Molecular Genetics and Metabolism, 2008

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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."