Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.R145W
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CYP1B1

NM_000104.4:p.R145W

Associated Papers

Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma.

López-Garrido MP et al.

Clinical Genetics, 2010

CYP1B1, a developmental gene with a potential role in glaucoma therapy.

Choudhary D et al.

Xenobiotica; the Fate of Foreign Compounds in Biological Systems, 2009

Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma.

López-Garrido MP et al.

Molecular Vision, 2006

[Coding sequence analysis of CYP1B1 exon III in the Polish population of patients with primary congenital and juvenile glaucoma].

Koraszewska-Matuszewska B et al.

Klinika Oczna, 2004

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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."