Varaico: Literature-Extracted Genetic Variants

Gene:COG6
Variant:p.L261*
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COG6

NM_020751.3:p.L261*

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

Correspondence on "Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG".

Lugli L et al.

American Journal of Medical Genetics. Part A, 2022

Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG.

Lugli L et al.

American Journal of Medical Genetics. Part A, 2021

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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."