Varaico: Literature-Extracted Genetic Variants

Gene:GCNT2
Variant:p.R228Q
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GCNT2

NM_145649.5:p.R228Q

Associated Papers

Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.

Pasternak Y et al.

The Journal of Allergy and Clinical Immunology. Global, 2024

38800615 (PubMed )
Supplement: mmc2.xlsx › P1-dominant

Molecular genetics of the blood group I system and the regulation of I antigen expression during erythropoiesis and granulopoiesis.

Yu LC et al.

Current Opinion in Hematology, 2011

A novel IGnT allele responsible for the adult i phenotype.

Lin M et al.

Transfusion, 2006

A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts.

Pras E et al.

Investigative Ophthalmology & Visual Science, 2004

The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts.

Yu LC et al.

Blood, 2003

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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."