Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.I324_T325insFs
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CYP1B1

NM_000104.4:p.I324_T325insFs

Associated Papers

Mutations of CYP1B1 and FOXC1 genes for childhood glaucoma in Japanese individuals.

Fuse N et al.

Japanese Journal of Ophthalmology, 2024

Exploring the Genetic Landscape of Childhood Glaucoma.

Pan Y et al.

Children (basel, Switzerland), 2024

Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients.

Haddad A et al.

European Journal of Ophthalmology, 2021

A clinical and molecular genetics study of primary congenital glaucoma in South Korea.

Suh W et al.

The British Journal of Ophthalmology, 2012

Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma.

Kim HJ et al.

Molecular Vision, 2011

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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."