Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.E176E
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CYP1B1

NM_000104.4:p.E176E

Associated Papers

Genetic changes and testing associated with childhood glaucoma: A systematic review.

Kumar A et al.

Plos One, 2024

38386645 (PubMed )
Supplement: pone.0298883.s003.xlsx › Non-Case_Studies

Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patients.

Tanwar M et al.

Molecular Vision, 2009

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."