Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.Q248*
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CYP1B1

NM_000104.4:p.Q248*

Associated Papers

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

Li N et al.

Experimental Eye Research, 2011

Primary Congenital Glaucoma and the Involvement of CYP1B1.

Kaur K et al.

Middle East African Journal of Ophthalmology, 2011

Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France.

Colomb E et al.

Human Mutation, 2003

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."