Varaico: Literature-Extracted Genetic Variants

Gene:CYP2C19
Variant:p.P30L
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CYP2C19

NM_000769.4:p.P30L

Associated Papers

The genetic landscape of major drug metabolizing cytochrome P450 genes-an updated analysis of population-scale sequencing data.

Zhou Y et al.

The Pharmacogenomics Journal, 2022

36068297 (PubMed )
Supplement: 41397_2022_288_MOESM4_ESM.xlsx › Sheet1

CYP2C9 and CYP2C19: Deep Mutational Scanning and Functional Characterization of Genomic Missense Variants.

Zhang L et al.

Clinical and Translational Science, 2020

Genotype Is Associated to the Degree of Virilization in Patients With Classic Congenital Adrenal Hyperplasia.

Neocleous V et al.

Frontiers in Endocrinology, 2018

Clinical Role of CYP2C19 Polymorphisms in Patients with Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency.

Grošelj U et al.

Acta Chimica Slovenica, 2016

A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Coeli-Lacchini FB et al.

Gene, 2013

Junction site analysis of chimeric CYP21A1P/CYP21A2 genes in 21-hydroxylase deficiency.

Chen W et al.

Clinical Chemistry, 2012

Polymorphisms of human cytochrome P450 2C9 and the functional relevance.

Zhou SF et al.

Toxicology, 2010

The common P450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency.

Gomes LG et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

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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."