Varaico: Literature-Extracted Genetic Variants

Gene:MOGS
Variant:p.A22E
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MOGS

NM_006302.3:p.A22E

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

The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID).

Bisgin A et al.

Scientific Reports, 2021

33859323 (PubMed )
Supplement: 41598_2021_87898_MOESM2_ESM.pdf

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

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

Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.

Kane MS et al.

American Journal of Human Genetics, 2016

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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."