Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.F123L
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CYP1B1

NM_000104.4:p.F123L

Associated Papers

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

Chouiter L et al.

Journal of Pediatric Genetics, 2017

Functional characterization of eight rare missense CYP1B1 variants involved in congenital glaucoma and their association with null genotypes.

Medina-Trillo C et al.

Acta Ophthalmologica, 2016

Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma.

López-Garrido MP et al.

Ophthalmology, 2013

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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."