Varaico: Literature-Extracted Genetic Variants

Gene:CYP2A7
Variant:p.N283insFs
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CYP2A7

NM_000764.3:p.N283insFs

Associated Papers

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."