Associated Papers
First reported autosomal recessive macular and cone dystrophy linked to homozygous PRPH2 variant in two Calabrian families.
Zhai Y et al.
Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 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 › Sheet2
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-s001.xlsx › Suppl._Table_S3
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