Varaico: Literature-Extracted Genetic Variants

Gene:COG6
Variant:p.H302_D303Fs
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COG6

NM_020751.3:p.H302_D303Fs

Associated Papers

Insights Into the Pathological Glycosylation Associated With COG6-CDG.

Pakanová Z et al.

Human Mutation, 2025

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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."