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Article

Global spectrum of population-specific common missense variation in cytochrome P450 pharmacogenes.

Human mutation - 1 Sept 2021

Chong Cheng-Shoong, Limviphuvadh Vachiranee, Maurer-Stroh Sebastian

Abstract excerpt

Next-generation sequencing technology has afforded the discovery of many novel variants that are of significance to inheritable pharmacogenomics (PGx) traits but a large proportion of them have unknown consequences. These include missense variants resulting in single amino acid substitutions in cytochrome P450 (CYP) proteins that can impair enzyme function, leading to altered drug efficacy and toxicity. While...

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PMID: 34153149
DOI: 10.1002/humu.24243

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