Associated Papers
Mutations of TOPORS identified in families with retinitis pigmentosa.
He K et al.
Ophthalmic Genetics, 2022
Autosomal Dominant Retinitis Pigmentosa-Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867.
Wang J et al.
Investigative Ophthalmology & Visual Science, 2022
35579903 (PubMed )
Supplement: iovs-63-5-19_s004.xlsx › Sheet1
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
Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases.
Chen X et al.
Investigative Ophthalmology & Visual Science, 2013
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