Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.A330S
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CYP1B1

NM_000104.4:p.A330S

Associated Papers

Natural Polymorphic Variants in the CYP450 Superfamily: A Review of Potential Structural Mechanisms and Functional Consequences.

Prost R et al.

International Journal of Molecular Sciences, 2025

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

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

Song N et al.

International Journal of Ophthalmology, 2019

Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma.

López-Garrido MP et al.

Clinical Genetics, 2010

Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma.

López-Garrido MP et al.

Molecular Vision, 2006

[Coding sequence analysis of CYP1B1 exon III in the Polish population of patients with primary congenital and juvenile glaucoma].

Koraszewska-Matuszewska B et al.

Klinika Oczna, 2004

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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."