Varaico: Literature-Extracted Genetic Variants

Gene:COG8
Variant:p.G528Splc
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COG8

NM_032382.5:p.G528Splc

Associated Papers

Golgi inCOGnito: From vesicle tethering to human disease.

D'Souza Z et al.

Biochimica Et Biophysica Acta. General Subjects, 2020

The first case of antenatal presentation in COG8-congenital disorder of glycosylation with a novel splice site mutation and an extended phenotype.

Arora V et al.

American Journal of Medical Genetics. Part A, 2019

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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."