Varaico: Literature-Extracted Genetic Variants

Gene:GCNT2
Variant:p.W326*
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GCNT2

NM_001491.3:p.W326*

Associated Papers

Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype.

Cheong SS et al.

Human Genome Variation, 2017

Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.

Irum B et al.

Plos One, 2016

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

Molecular characteristics of inherited congenital cataracts.

Huang B et al.

European Journal of Medical Genetics, 0

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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."