Associated Papers
Spectrum of inherited eye disorders at Hong Kong Children's Hospital: insights into the local genetic landscape and experience with ocular genetic services.
Cheng SSW et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2025
40755077 (PubMed )
Supplement: hkmj2412298-supplementary.pdf
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 › Protein_truncating_variants
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