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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping
    1
    1. ClingenBaseline 21 Oct 2026
      RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping

      PMID: 37806543

      Gene: RBP3

      HGNC: 9921

      Disease: retinitis pigmentosa 66

      MONDO: 0014093

      InheritancePattern: autosomal recessive

      Prevalence: RBP3-related cases are believed to be very rare (possibly with estimated prevalence of less than 1 in 1,000,000), however, it is believed that there may be under-diagnosis (PMID: 37806543).

      Penetrance: RBP3 disease-causing variants appear to have complete penetrance.

      General ClinGen Gene:RBP3 HGNC:9921 inferred_gene_hgnc:9921 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/37806543/
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Kinetics of visual pigment regeneration in excised mouse eyes and in mice with a targeted disruption of the gene encoding interphotoreceptor retinoid-binding protein or arrestin
    1
    1. ClingenBaseline 21 Oct 2026
      Kinetics of visual pigment regeneration in excised mouse eyes and in mice with a targeted disruption of the gene encoding interphotoreceptor retinoid-binding protein or arrestin

      PMID: 10508404

      Gene: RBP3

      HGNC: 9921

      Disease: retinitis pigmentosa 66

      MONDO: 0014093

      InheritancePattern: autosomal recessive

      Prevalence: RBP3-related cases are believed to be very rare (possibly with estimated prevalence of less than 1 in 1,000,000), however, it is believed that there may be under-diagnosis (PMID: 37806543).

      Penetrance: RBP3 disease-causing variants appear to have complete penetrance.

      General ClinGen Gene:RBP3 HGNC:9921 inferred_gene_hgnc:9921 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/10508404/
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Interphotoreceptor Retinoid-Binding Protein (IRBP) in Retinal Health and Disease
    1
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    pubmed.ncbi.nlm.nih.gov/33328889/