Articles with "rpgr variant" as a keyword



Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel Intronic RPGR Variant Assessment for Therapy Suitability

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Published in 2022 at "Journal of Personalized Medicine"

DOI: 10.3390/jpm12030502

Abstract: The RPGR gene encodes Retinitis Pigmentosa GTPase Regulator, a known interactor with ciliary proteins, which is involved in maintaining healthy photoreceptor cells. Variants in RPGR are the main contributor to X-linked rod-cone dystrophy (RCD), and… read more here.

Keywords: rpgr; ipsc; intronic rpgr; therapy ... See more keywords