Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.N498D
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CYP1B1

NM_000104.4:p.N498D

Associated Papers

Genetic Epidemiology of Primary Congenital Glaucoma in the 22 Arab Countries: A Systematic Review.

Jemmeih S et al.

Ophthalmic Epidemiology, 2022

Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma.

Li N et al.

Experimental Eye Research, 2011

Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma.

Choudhary D et al.

Pharmacogenetics and Genomics, 2008

A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG).

El-Ashry MF et al.

Journal of Glaucoma, 2007

Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.

Faiq M et al.

Journal of Current Glaucoma Practice, 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."