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Article

An erythroid-specific ATP2B4 enhancer mediates red blood cell hydration and malaria susceptibility.

The Journal of clinical investigation - 1 Aug 2017

Lessard Samuel, Gatof Emily Stern, Beaudoin Mélissa, Schupp Patrick G, Sher Falak, Ali Adnan, Prehar Sukhpal, Kurita Ryo, Nakamura Yukio, Baena Esther, Ledoux Jonathan, Oceandy Delvac, Bauer Daniel E, Lettre Guillaume

Abstract excerpt

The lack of mechanistic explanations for many genotype-phenotype associations identified by GWAS precludes thorough assessment of their impact on human health. Here, we conducted an expression quantitative trait locus (eQTL) mapping analysis in erythroblasts and found erythroid-specific eQTLs for...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28714864
DOI: 10.1172/JCI94378
PMCID: PMC5531409

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-28714864-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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