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Proof of principle concept for the analysis and functional prediction of rare genetic variants in the CYP2C19 and CYP2D6 genes.

Human genomics - 28 May 2025

Johansson Inger, Lu Yuchen, Zhou Yitian, Krebs Kristi, Akcan Martina, Milani Lili, Ingelman-Sundberg Magnus

Abstract excerpt

BACKGROUND: Variations in pharmacogenes that regulate drug absorption, distribution, metabolism, and excretion (ADME) contribute to approximately 20-30% of interindividual differences in drug response. While many common variants are successfully utilized in clinical settings to predict individual drug responses, a significant portion of the genetic basis underlying this variability remains unidentified. This...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40437642
DOI: 10.1186/s40246-025-00765-2
PMCID: PMC12117788

Genes

CYP2C19

Provenance

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