Varaico: Literature-Extracted Genetic Variants

Gene:COG6
Variant:p.L381del1
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COG6

NM_020751.3:p.L381del1

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

COG6-CDG: Novel variants and novel malformation.

Cirnigliaro L et al.

Birth Defects Research, 2022

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