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[PMID 10775529] Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.
[PMID 12427073] Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.
[PMID 10775] [Does anesthesia have an immunosuppressive effect?].
[PMID 10909849] Identification of novel USH2A mutations: implications for the structure of USH2A protein.
[PMID 12112664] Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.
[PMID 14970843] Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.
[PMID 15325563] Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.
[PMID 16098008] Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation.