Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.R348Splc
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CYP1B1

NM_000104.4:p.R348Splc

Associated Papers

Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients.

Haddad A et al.

European Journal of Ophthalmology, 2021

Mutational analysis of the CYP1B1 gene in Pakistani primary congenital glaucoma patients: Identification of four known and a novel causative variant at the 3' splice acceptor site of intron 2.

Afzal R et al.

Congenital Anomalies, 2019

Role of the aryl hydrocarbon receptor-interacting protein in familial isolated pituitary adenoma.

Cain JW et al.

Expert Review of Endocrinology & Metabolism, 2010

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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."