Varaico: Literature-Extracted Genetic Variants

Gene:MOGS
Variant:p.R535*
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MOGS

NM_006302.3:p.R535*

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

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

Shimada S et al.

Journal of Medical Genetics, 2022

Identification and characterization of novel mutations in MOGS in a Chinese patient with infantile spams.

Peiwei Zhao et al.

Neurogenetics, 2020

Characteristic dysmorphic features in congenital disorders of glycosylation type IIb.

Kim YM et al.

Journal of Human Genetics, 2018

Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer.

Liu J et al.

Nature Communications, 2014

24807215 (PubMed )
Supplement: ncomms4830-s10.xls › S9-Cell_line_mutations
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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."