Associated Papers
Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.
Surl D et al.
Jama Network Open, 2024
38819824 (PubMed )
Supplement: jamanetwopen-e2414198-s001.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
Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.
Kim MS et al.
Journal of Korean Medical Science, 2019
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