Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.D374E
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CYP1B1

NM_000104.4:p.D374E

Associated Papers

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

Genetics and Glaucoma: the state of the art.

Tirendi S et al.

Frontiers in Medicine, 2023

Two novel variants in CYP1B1 gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients.

Waryah YM et al.

International Journal of Ophthalmology, 2019

In silico analysis of five missense mutations in CYP1B1 gene in Pakistani families affected with primary congenital glaucoma.

Firasat S et al.

International Ophthalmology, 2018

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

Li N et al.

Experimental Eye Research, 2011

Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.

Firasat S et al.

Molecular Vision, 2008

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."