Varaico: Literature-Extracted Genetic Variants

Gene:GCNT2
Variant:p.R383K
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GCNT2

NM_145649.5:p.R383K

Associated Papers

Next-Generation Sequencing in Congenital Eye Malformations: Identification of Genetic Causes and Comparison of Different Panel-Based Diagnostic Strategies.

Neuhann L et al.

International Journal of Molecular Sciences, 2025

Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.

Irum B et al.

Plos One, 2016

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."