Associated Papers
A Novel N-Terminal PRPF6 Variant in Autosomal Dominant Retinitis Pigmentosa.
Li N et al.
Clinical Case Reports, 2026
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
36819107 (PubMed )
Supplement: Table4.xlsx › Results
Aberrant Retinal Pigment Epithelial Cells Derived from Induced Pluripotent Stem Cells of a Retinitis Pigmentosa Patient with the PRPF6 Mutation.
Liang Y et al.
International Journal of Molecular Sciences, 2022
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
33749171 (PubMed )
Supplement: MGG3-9-e1663-s001.xlsx › new
The role of splicing factors in retinitis pigmentosa: links to cilia.
Maxwell DW et al.
Biochemical Society Transactions, 2021
The Role of the U5 snRNP in Genetic Disorders and Cancer.
Wood KA et al.
Frontiers in Genetics, 2021
Variant Profiling of a Large Cohort of 138 Chinese Families With Autosomal Dominant Retinitis Pigmentosa.
Xiao T et al.
Frontiers in Cell and Developmental Biology, 2020
33598457 (PubMed )
Supplement: Data_Sheet_1.XLSX › sheet_1
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