Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.L345F
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CYP1B1

NM_000104.4:p.L345F

Associated Papers

Natural Polymorphic Variants in the CYP450 Superfamily: A Review of Potential Structural Mechanisms and Functional Consequences.

Prost R et al.

International Journal of Molecular Sciences, 2025

Identification and structural analysis of pathogenic variants in MYOC and CYP1B1 genes in Indian JOAG patients.

Yadav M et al.

Japanese Journal of Ophthalmology, 2025

Screening of high-risk deleterious missense variations in the CYP1B1 gene implicated in the pathogenesis of primary congenital glaucoma: A comprehensive in silico approach.

Shahid M et al.

Peerj, 2022

36518267 (PubMed )
Supplement: peerj-10-14132-s001.xlsx › PANTHER

Complex genetic mechanisms in glaucoma: an overview.

Rao KN et al.

Indian Journal of Ophthalmology, 2011

CYP1B1, a developmental gene with a potential role in glaucoma therapy.

Choudhary D et al.

Xenobiotica; the Fate of Foreign Compounds in Biological Systems, 2009

Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD).

Chavarria-Soley G et al.

Journal of Glaucoma, 2006

Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.

Vincent AL et al.

American Journal of Human Genetics, 2002

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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."