Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.V243L
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CYP1B1

NM_000104.4:p.V243L

Associated Papers

[Genetic variants of CYP1B1 and WDR36 in the patients with primary congenital glaucoma and primary open angle glaucoma from Saint-Petersburg].

Motushchuk AE et al.

Genetika, 2009

Leu432Val polymorphism in CYP1B1 as a susceptible factor towards predisposition to primary open-angle glaucoma.

Bhattacharjee A et al.

Molecular Vision, 2008

Screening glaucoma genes in adult glaucoma suggests a multiallelic contribution of CYP1B1 to open-angle glaucoma phenotypes.

Patel HY et al.

Clinical & Experimental Ophthalmology, 0

Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma.

Micheal S et al.

Clinical & Experimental Ophthalmology, 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."