Associated Papers
Importance of genome reference and population datasets for annotation and prioritization of disease-causing variants in inherited retinal diseases.
Stafie ST et al.
Ophthalmic Genetics, 2025
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.
Wheway G et al.
Experimental Eye Research, 2020
A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family.
Saini S et al.
Experimental Eye Research, 2012
Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India.
Gandra M et al.
Molecular Vision, 2008
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