Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.P513P
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CYP1B1

NM_000104.4:p.P513P

Associated Papers

Primary congenital glaucoma in two siblings with different compound heterozygous CYP1B1 genotypes.

Ruiz Guijosa A et al.

Ophthalmic Genetics, 2024

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

Campos-Mollo E et al.

Molecular Vision, 2009

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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."