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Article

A Complete Picture of the CYP2D6 Heterogeneity in Northeastern Italian Genetic Isolates.

International journal of molecular sciences - 26 Sept 2025

Tesolin Paola, Nardone Giuseppe Giovanni, Santin Aurora, Pecori Alessandro, Ruberto Romina, Concas Maria Pina, Zampieri Stefania, Girotto Giorgia

Abstract excerpt

The CYP2D6 gene is a highly polymorphic pharmacogene involved in the metabolism of 25% of commonly used drugs. We aim to assess the feasibility of extracting relevant pharmacogenomic information from Whole Genome Sequencing (WGS) data and to highlight any difference in CYP2D6 allele frequencies between the northeastern Italian and European populations. To achieve this aim, WGS was performed on two cohorts: 664...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41096713
DOI: 10.3390/ijms26199445
PMCID: PMC12524953

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