Varaico: Literature-Extracted Genetic Variants

Gene:EOGT
Variant:p.W207S
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EOGT

NM_001278689.2:p.W207S

Associated Papers

O-GlcNAc glycans in the mammalian extracellular environment.

Tsukamoto Y et al.

Carbohydrate Research, 2025

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.

Meester JAN et al.

Human Mutation, 2018

29924900 (PubMed )
Supplement: HUMU-39-1246-s001.pdf

EOGT and O-GlcNAc on secreted and membrane proteins.

Varshney S et al.

Biochemical Society Transactions, 2017

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1

N-acetylglucosamine modification in the lumen of the endoplasmic reticulum.

Ogawa M et al.

Biochimica Et Biophysica Acta, 2015

Impaired O-linked N-acetylglucosaminylation in the endoplasmic reticulum by mutated epidermal growth factor (EGF) domain-specific O-linked N-acetylglucosamine transferase found in Adams-Oliver syndrome.

Ogawa M et al.

The Journal of Biological Chemistry, 2015

Extracellular O-linked β-N-acetylglucosamine: Its biology and relationship to human disease.

Ogawa M et al.

World Journal of Biological Chemistry, 2014

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.

Shaheen R et al.

American Journal of Human Genetics, 2013

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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."