Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.Q479R
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CYP1B1

NM_000104.4:p.Q479R

Associated Papers

Updates on the molecular genetics of primary congenital glaucoma (Review).

Ling C et al.

Experimental and Therapeutic Medicine, 2020

Identities and frequencies of variants in CYP1B1 causing primary congenital glaucoma in Pakistan.

Rashid M et al.

Molecular Vision, 2019

Investigation of mutational spectrum in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma.

Zahid T et al.

Pakistan Journal of Medical Sciences, 0

Diagnostic accuracy of next generation sequencing-based genetic research for primary glaucoma: A systematic review and meta-analysis.

Liu Y et al.

Survey of Ophthalmology, 0

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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."