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Article

PACSIN2 rs2413739 influence on thiopurine pharmacokinetics: validation studies in pediatric patients.

The pharmacogenomics journal - 1 Jun 2020

Franca Raffaella, Stocco Gabriele, Favretto Diego, Giurici Nagua, Del Rizzo Irene, Locatelli Franco, Vinti Luciana, Biondi Andrea, Colombini Antonella, Fagioli Franca, Barisone Elena, Pelin Marco, Martellossi Stefano, Ventura Alessandro, Decorti Giuliana, Rabusin Marco

Abstract excerpt

The aim of the study was to validate the impact of the single-nucleotide polymorphism rs2413739 (T > C) in the PACSIN2 gene on thiopurines pharmacological parameters and clinical response in an Italian cohort of pediatric patients with acute lymphoblastic leukemia (ALL) and inflammatory bowel disease (IBD). In ALL, PACSIN2 rs2413739 T allele was associated with a significant reduction of TPMT activity in...

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PMID: 31792371
DOI: 10.1038/s41397-019-0130-0

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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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