Varaico: Literature-Extracted Genetic Variants

Gene:MOGS
Variant:p.P513S
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MOGS

NM_006302.3:p.P513S

Associated Papers

Updated clinical and glycomic features of mannosyl-oligosaccharide glucosidase deficiency: Two case reports.

Abuduxikuer K et al.

World Journal of Clinical Cases, 2022

Epilepsy and movement disorders in CDG: Report on the oldest-known MOGS-CDG patient.

Lo Barco T 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."