Associated Papers
Nonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in Müller Glial Cells.
Valenzano R et al.
International Journal of Molecular Sciences, 2026
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
Global spectrum of USH2A mutation in inherited retinal dystrophies: Prompt message for development of base editing therapy.
Su BN et al.
Frontiers in Aging Neuroscience, 2022
36034145 (PubMed )
Supplement: Table_2.XLSX › Sheet1
Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome.
Li W et al.
Frontiers in Genetics, 2022
36110214 (PubMed )
Supplement: Table1.XLSX › 768_distinct_USH2A_variants
Prevalence and genetic-phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease.
Gao FJ et al.
The British Journal of Ophthalmology, 2021
32188678 (PubMed )
Supplement: bjophthalmol-2020-315878supp001.pdf
Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.
Birtel J et al.
Plos One, 2018
30543658 (PubMed )
Supplement: pone.0207958.s002.docx
Genetic Inheritance of Late-Onset, Down-Sloping Hearing Loss and Its Implications for Auditory Rehabilitation.
Song MH et al.
Ear and Hearing, 0
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