Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.L385F
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CYP1B1

NM_000104.4:p.L385F

Associated Papers

Updates on the molecular genetics of primary congenital glaucoma (Review).

Ling C et al.

Experimental and Therapeutic Medicine, 2020

Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma.

Chouiter L et al.

Journal of Pediatric Genetics, 2017

Genotype/Phenotype Correlation in Primary Congenital Glaucoma Patients in the Lebanese Population: A Pilot Study.

Al-Haddad C et al.

Ophthalmic Genetics, 2016

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

Li N et al.

Experimental Eye Research, 2011

[Analysis of the CYP1B1 gene mutation in primary congenital glaucoma patients of Hubei Han nationality].

Jiang FG et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2007

Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.

Faiq M et al.

Journal of Current Glaucoma Practice, 0

Targeted Screening for Predominant CYP1B1 Mutations in Primary Congenital Glaucoma.

Sarfarazi M

Journal of Ophthalmic & Vision Research, 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."