Associated Papers
The pathogenicity of a novel frame-shift variant c.2321delC of PROM1 in an autosomal recessive cone-rod dystrophy pedigree may be associated with augment of autophagy.
Wu C et al.
Experimental Eye Research, 2025
Characterization of PROM1 p.Arg373Cys Variant in a Cohort of Chinese Patients: Macular Dystrophy Plus Peripheral Bone-Spicule Degeneration.
Wang Y et al.
Investigative Ophthalmology & Visual Science, 2021
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