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Article

Novel copy-number variations in pharmacogenes contribute to interindividual differences in drug pharmacokinetics.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2018

Santos María, Niemi Mikko, Hiratsuka Masahiro, Kumondai Masaki, Ingelman-Sundberg Magnus, Lauschke Volker M, Rodríguez-Antona Cristina

Abstract excerpt

PurposeVariability in pharmacokinetics and drug response is shaped by single-nucleotide variants (SNVs) as well as copy-number variants (CNVs) in genes with importance for drug absorption, distribution, metabolism, and excretion (ADME). While SNVs have been extensively studied, a systematic assessment of the CNV landscape in ADME genes is lacking.MethodsWe integrated data from 2,504 whole genomes from the 1000...

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PMID: 29261188
DOI: 10.1038/gim.2017.156

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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