Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.N519insFs
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CYP1B1

NM_000104.4:p.N519insFs

Associated Papers

Investigation of the association between the GLC3A locus and normal tension glaucoma in Japanese patients by microsatellite analysis.

Kamio M et al.

Clinical Ophthalmology (auckland, N.z.), 2009

Glaucoma in Costa Rica. Initial approaches.

Chavarría-Soley G et al.

Revista De Biologia Tropical, 2004

Correlations of genotype with phenotype in Indian patients with primary congenital glaucoma.

Panicker SG et al.

Investigative Ophthalmology & Visual Science, 2004

Founder mutations of CYP1B1 gene in patients with congenital glaucoma from the United States and Brazil.

Sena DF et al.

Journal of Medical Genetics, 2004

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

Primary congenital glaucoma: three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene.

Michels-Rautenstrauss KG et al.

Journal of Glaucoma, 2001

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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."