Varaico: Literature-Extracted Genetic Variants

Gene:MOGS
Variant:p.D414fs
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MOGS

NM_006302.3:p.D414fs

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

Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.

Xi Y et al.

Molecular Genetics & Genomic Medicine, 2020

32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf

Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb.

Li M et al.

Journal of Human Genetics, 2019

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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."