Associated Papers
Clinical characterization of patients with PRPF31-related retinitis pigmentosa and asymptomatic carriers: a cross-sectional study.
Lisbjerg K et al.
Ophthalmic Genetics, 2023
Disease progression of retinitis pigmentosa caused by PRPF31 variants in a Nordic population: a retrospective study with up to 36 years follow-up.
Lisbjerg K et al.
Ophthalmic Genetics, 2023
Genetic Modifiers of Non-Penetrance and RNA Expression Levels in PRPF31-Associated Retinitis Pigmentosa in a Danish Cohort.
Lisbjerg K et al.
Genes, 2023
Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.
Wheway G et al.
Experimental Eye Research, 2020
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
30718709 (PubMed )
Supplement: 41598_2018_38007_MOESM2_ESM.xlsx › Ark1
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