Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.A330T
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CYP1B1

NM_000104.4:p.A330T

Associated Papers

Loss of PRSS56 function leads to ocular angle defects and increased susceptibility to high intraocular pressure.

Labelle-Dumais C et al.

Disease Models & Mechanisms, 2020

Genetic insight into cytochrome P450 in Chinese from the Chinese Millionome Database.

Qi G et al.

Basic & Clinical Pharmacology & Toxicology, 2020

Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma.

Chouiter L et al.

Journal of Pediatric Genetics, 2017

Primary Congenital Glaucoma and the Involvement of CYP1B1.

Kaur K et al.

Middle East African Journal of Ophthalmology, 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."