Varaico: Literature-Extracted Genetic Variants

Gene:COG8
Variant:p.L58fs
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COG8

NM_032382.5:p.L58fs

Associated Papers

COG Complex in Golgi Trafficking and Glycosylation.

Sumya FT et al.

Sub-cellular Biochemistry, 2026

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

D'Souza Z et al.

Cells, 2021

Golgi inCOGnito: From vesicle tethering to human disease.

D'Souza Z et al.

Biochimica Et Biophysica Acta. General Subjects, 2020

Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing.

Yang A et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017

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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."