Varaico: Literature-Extracted Genetic Variants

Gene:COG4
Variant:p.E63delFs
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COG4

NM_015386.3:p.E63delFs

Associated Papers

Hypothesis: lobe A (COG1-4)-CDG causes a more severe phenotype than lobe B (COG5-8)-CDG.

Haijes HA et al.

Journal of Medical Genetics, 2018

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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."