Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.L283insFs
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CYP1B1

NM_000104.4:p.L283insFs

Associated Papers

CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients.

Sitorus R et al.

Journal of Medical Genetics, 2003

A novel truncating mutation of cytochrome P4501B1 (CYP1B1) gene in primary infantile glaucoma.

Kakiuchi T et al.

American Journal of Ophthalmology, 1999

Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1.

Stoilov I et al.

American Journal of Human Genetics, 1998

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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."