Varaico: Literature-Extracted Genetic Variants

Gene:COG1
Variant:p.A887insFs
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COG1

NM_018714.3:p.A887insFs

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

COG1-congenital disorders of glycosylation: Milder presentation and review.

Salazar M et al.

Clinical Genetics, 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

Maintaining order: COG complex controls Golgi trafficking, processing, and sorting.

Blackburn JB et al.

Febs Letters, 2019

Golgi function and dysfunction in the first COG4-deficient CDG type II patient.

Reynders E et al.

Human Molecular Genetics, 2009

Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1.

Zeevaert R et al.

Human Molecular Genetics, 2009

Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.

Leroy JG

Pediatric Research, 2006

Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.

Foulquier F et al.

Proceedings of the National Academy of Sciences of the United States of America, 2006

Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing.

Jones MA et al.

Molecular Genetics and Metabolism, 0

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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."