Varaico: Literature-Extracted Genetic Variants

Gene:MOGS
Variant:p.L697S
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MOGS

NM_006302.3:p.L697S

Associated Papers

Congenital disorder of glycosylation type IIb in an infant with developmental and epileptic encephalopathy.

Shwetabh RK et al.

Bmj Case Reports, 2025

Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.

Shimada S et al.

Journal of Medical Genetics, 2022

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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."