Varaico: Literature-Extracted Genetic Variants

Gene:COG8
Variant:p.Y537*
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COG8

NM_032382.5:p.Y537*

Associated Papers

Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.

Jiang Y et al.

Nature Communications, 2022

36418292 (PubMed )
Supplement: 41467_2022_34689_MOESM4_ESM.zip › Supplementary_Data › Supplementary_Data_5.xlsx › Sheet1

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

D'Souza Z et al.

Cells, 2021

Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.

Lipiński P et al.

Diagnostics (basel, Switzerland), 2021

Golgi inCOGnito: From vesicle tethering to human disease.

D'Souza Z et al.

Biochimica Et Biophysica Acta. General Subjects, 2020

Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation.

Linders PTA et al.

International Journal of Molecular Sciences, 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

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

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

A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation.

Foulquier F et al.

Human Molecular Genetics, 2007

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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."