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Article

Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis

23 Apr 2020

Abstract excerpt

Abstract Hemoglobin is the essential oxygen-carrying molecule in humans and is regulated by cellular iron and oxygen sensing mechanisms. To search for novel variants associated with hemoglobin concentration, we performed genome-wide association studies of hemoglobin concentration using a combined set of 684,122 individuals from Iceland and the UK. Notably, we found seven novel variants, six rare coding and one...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32327693
DOI: 10.1038/s42003-020-0921-5

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