Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.L343del1
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CYP1B1

NM_000104.4:p.L343del1

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

Screening of West Siberian patients with primary congenital glaucoma for CYP1B1 gene mutations.

Ivanoshchuk DE et al.

Vavilovskii Zhurnal Genetiki I Selektsii, 2020

A clinical and molecular genetic study of German patients with primary congenital glaucoma.

Weisschuh N et al.

American Journal of Ophthalmology, 2009

Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.

Chavarria-Soley G et al.

Human Mutation, 2008

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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."