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A gain of function variant in PIEZO1 (E756del) and sickle cell disease.

Helen Rooks, John Brewin, Kate Gardner, Subarna Chakravorty, Stephan Menzel, Anke Hannemann, John Gibson, David C Rees

OAI: oai:www.repository.cam.ac.uk:1810/289603 • DOI: 10.17863/CAM.36852

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Abstract

Alleles Anemia Sickle Cell Biomarkers Erythrocyte Indices Erythrocytes Gain of Function Mutation Genotype Humans Ion Channels Phenotype Sequence Deletion