Associated Papers
Genotype-Phenotype Correlations in PRPH2 Retinopathies: A Comprehensive Analysis of 36 Patients from the Oxford Eye Hospital, UK.
Al-Khuzaei S et al.
Genes, 2025
New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review.
Wang Y et al.
International Journal of Molecular Sciences, 2023
37047703 (PubMed )
Supplement: ijms-24-06728-s001.zip › WangYW-PRPH2-sup_Table_S2_sub.xlsx › Sheet1
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
34411390 (PubMed )
Supplement: HUMU-42-1521-s005.xlsx › All_PRPH2_variants
A novel complex mutation event in the peripherin/RDS gene in a family with retinal pattern dystrophy.
Pajic B et al.
Retina (philadelphia, Pa.), 2006
Genetic heterogeneity in autosomal dominant pattern dystrophy of the retina.
Weigell-Weber M et al.
Molecular Vision, 1996
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