Associated Papers
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.
Peeters MHCA et al.
Human Mutation, 2021
Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly).
Katagiri S et al.
Ophthalmic Genetics, 2018
The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse.
Stuck MW et al.
Human Molecular Genetics, 2014
Genetic and phenotypic heterogeneity in pattern dystrophy.
Francis PJ et al.
The British Journal of Ophthalmology, 2005
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