Varaico: Literature-Extracted Genetic Variants

Gene:MOGS
Variant:p.D566E
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MOGS

NM_006302.3:p.D566E

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

Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.

Gao J et al.

International Journal of Molecular Sciences, 2020

32344918 (PubMed )
Supplement: ijms-21-03040-s001.zip › Supplementary_Data › Supplementary_Data_2.xlsx › S_Data_2

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

Peiwei Zhao et al.

Neurogenetics, 2020

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."