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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYP1B1

Variant:p.R145P

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CYP1B1

NM_000104.4:p.R145P

hg38:chr2:38074955 C>G

Associated Papers

Complete aniridia with central keratopathy and congenital glaucoma is a CYP1B1-related phenotype.

Khan AO et al.

Ophthalmic Genetics, 2014

23767995 (PubMed )

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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."