Varaico: Literature-Extracted Genetic Variants

Gene:COG1
Variant:p.R889insFs
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COG1

NM_018714.3:p.R889insFs

Associated Papers

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."