Varaico: Literature-Extracted Genetic Variants

Gene:GCNT2
Variant:p.Y347C
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GCNT2

NM_001491.3:p.Y347C

Associated Papers

Bilateral juvenile-onset cataracts associated with GCNT2 variants.

Kamel KM et al.

Ophthalmic Genetics, 2026

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.

Patel N et al.

Human Genetics, 2017

Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.

Slavotinek AM et al.

Clinical Genetics, 2015

Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes.

Aldahmesh MA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012

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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."