Varaico: Literature-Extracted Genetic Variants

Gene:COG5
Variant:p.P744L
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COG5

NM_006348.5:p.P744L

Associated Papers

Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein.

Khabou B et al.

Journal of Human Genetics, 2024

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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."