MERTK missense variants in three patients with retinitis pigmentosa
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DOI: 10.1080/13816810.2022.2113541
Abstract: ABSTRACT Background MERTK (MER proto-oncogene, tyrosine kinase) is a transmembrane protein essential in regulating photoreceptor outer segment phagocytosis. Biallelic mutations in MERTK cause retinal degeneration. Here we present the retinal phenotype of three patients with… read more here.
Keywords: mertk; retinitis pigmentosa; three patients; missense variants ... See more keywords