Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.H279D
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CYP1B1

NM_000104.4:p.H279D

Associated Papers

Functional genomics of primary congenital glaucoma by pathway analysis and functional characterization of CYP1B1 mutations.

Faiq MA et al.

Vision Research, 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

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

Li N et al.

Experimental Eye Research, 2011

MYOC and FOXC1 gene analysis in primary congenital glaucoma.

Tanwar M et al.

Molecular Vision, 2010

Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.

Tanwar M et al.

Molecular Vision, 2009

Molecular Diagnostics and Genetic Counseling in Primary Congenital Glaucoma.

Faiq M et al.

Journal of Current Glaucoma Practice, 0

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."