Varaico: Literature-Extracted Genetic Variants

Gene:COG6
Variant:p.E80K
Back to variants list

COG6

NM_020751.3:p.E80K

Associated Papers

Insights Into the Pathological Glycosylation Associated With COG6-CDG.

Pakanová Z et al.

Human Mutation, 2025

41362306 (PubMed )
Supplement: 7948771.f11.xlsx › H_rok1

The Swedish COG6-CDG experience and a comprehensive literature review.

Xia ZJ et al.

Jimd Reports, 2023

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Stranneheim H et al.

Genome Medicine, 2021

33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."