Associated Papers
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
Case Report: Lennox-Gastaut Epileptic Encephalopathy Responsive to Cannabidiol Treatment Associated With a Novel de novo Mosaic SHANK1 Variant.
Paprocka J et al.
Frontiers in Genetics, 2021
34912368 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_1
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.
Garcia-Garcia G et al.
Orphanet Journal of Rare Diseases, 2011
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.
McGee TL et al.
Journal of Medical Genetics, 2010
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.
Yan D et al.
Journal of Human Genetics, 2009
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
Dreyer B et al.
Human Mutation, 2008
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