Associated Papers
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
Mutation Analysis of the RPGR Gene in a Chinese Cohort.
Liu HL et al.
Frontiers in Genetics, 2022
Genotype-Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review.
Yang J et al.
Frontiers in Genetics, 2021
34745198 (PubMed )
Supplement: Table_1.XLSX › Sheet1
Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.
Neidhardt J et al.
Molecular Vision, 2008
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