Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.L378Q
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CYP1B1

NM_000104.4:p.L378Q

Associated Papers

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

Li N et al.

Experimental Eye Research, 2011

CYP1B1 gene analysis in primary congenital glaucoma Brazilian patients: novel mutations and association with poor prognosis.

Della Paolera M et al.

Journal of Glaucoma, 2010

Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.

Faiq M et al.

Journal of Current Glaucoma Practice, 0

CYP1B1 mutational screening in a Portuguese cohort of primary congenital glaucoma patients.

Simões MJ et al.

Ophthalmic Genetics, 0

Influence of CYP1B1 Variants on Phenotypic Characteristics and Therapeutic Outcomes in Primary Congenital Glaucoma.

Rodrigues R et al.

Ophthalmology. Glaucoma, 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."