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Genetic analyses of human fetal retinal pigment epithelium gene expression suggest ocular disease mechanisms

20 May 2019

Abstract excerpt

Abstract The retinal pigment epithelium (RPE) serves vital roles in ocular development and retinal homeostasis but has limited representation in large-scale functional genomics datasets. Understanding how common human genetic variants affect RPE gene expression could elucidate the sources of phenotypic variability in selected monogenic ocular diseases and pinpoint causal genes at genome-wide association study...

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PMID: 31123710
DOI: 10.1038/s42003-019-0430-6

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