Associated Papers
PRPH2-ASSOCIATED RETINAL DISEASES: A SYSTEMATIC REVIEW OF PHENOTYPIC FINDINGS.
AlAshwal SM et al.
American Journal of Ophthalmology, 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 case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants.
Wolock CJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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