Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.G365E
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CYP1B1

NM_000104.4:p.G365E

Associated Papers

Analysis of early-onset glaucoma genes in primary congenital glaucoma patients residing in North India identifies an additional case with THBS1 Arg1034Cys.

Somarajan BI et al.

Ophthalmic Genetics, 2025

Genetic changes and testing associated with childhood glaucoma: A systematic review.

Kumar A et al.

Plos One, 2024

38386645 (PubMed )
Supplement: pone.0298883.s003.xlsx › Non-Case_Studies

Expanding the phenotypic spectrum of CYP1B1 associated primary congenital glaucoma.

Gupta V et al.

Clinical & Experimental Ophthalmology, 2022

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

Haddad A et al.

European Journal of Ophthalmology, 2021

Primary congenital glaucoma in Vietnam: analysis and identification of novel CYP1B1 variants.

Tran HT et al.

Ophthalmic Genetics, 2019

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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."