Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.R48W
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CYP1B1

NM_000104.4:p.R48W

Associated Papers

Compound heterozygous mutations in CYP1B1 gene leads to severe primary congenital glaucoma phenotype.

Song N et al.

International Journal of Ophthalmology, 2019

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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."