Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.S185insFs
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CYP1B1

NM_000104.4:p.S185insFs

Associated Papers

Mutation spectrum of the CYP1B1 gene for congenital glaucoma in the Japanese population.

Fuse N et al.

Japanese Journal of Ophthalmology, 2010

CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability.

Campos-Mollo E et al.

Molecular Vision, 2009

Primary congenital glaucoma: a novel single-nucleotide deletion and varying phenotypic expression for the 1,546-1,555dup mutation in the GLC3A (CYP1B1) gene in 2 families of different ethnic origin.

Soley GC et al.

Journal of Glaucoma, 2003

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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."