Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.D242A
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CYP1B1

NM_000104.4:p.D242A

Associated Papers

Intrinsic disorder in CYP1B1 and its implications in primary congenital glaucoma pathogenesis.

Sharma M et al.

Journal of Proteins and Proteomics, 2025

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

Ling C et al.

Experimental and Therapeutic Medicine, 2020

Two novel variants in CYP1B1 gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients.

Waryah YM et al.

International Journal of Ophthalmology, 2019

Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma.

Micheal S et al.

Clinical & Experimental 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."