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  1. ... Proband Genetic Risk Assessment Resources Management of Nonsyndromic Retinitis Pigmentosa References Chapter Notes GeneReviews Links GeneReviews Advanced Search GeneReviews ...
  2. ... gov Catalog of Genes and Diseases from OMIM RETINITIS PIGMENTOSA; RP Scientific Articles on PubMed PubMed References Daiger SP, Bowne SJ, Sullivan LS. Perspective on ...
  3. ... Genes and Diseases from OMIM NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA Scientific Articles on PubMed PubMed References Ball M, Thorburn DR, Rahman S. Mitochondrial DNA-Associated ...
  4. ... Disorders View in own window Gene MOI Disorder Reference RPE65 AR Typical retinitis pigmentosa (RP type 20) 1 Nonsyndromic Retinitis Pigmentosa Overview ...
  5. ... like episodes National Library of Medicine Genetics Home Reference Neuropathy, ataxia, and retinitis pigmentosa United Mitochondrial Disease Foundation (UMDF) 8085 Saltsburg Road ...
  6. ... CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM Scientific Articles on PubMed PubMed References Chakraborty PK, Schmitz-Abe K, Kennedy EK, Mamady ...
  7. ... PERIPHERIN 2; PRPH2 MACULAR DYSTROPHY, PATTERNED, 1; MDPT1 RETINITIS PIGMENTOSA 7; RP7 Gene and Variant Databases NCBI Gene ClinVar References Boon CJ, den Hollander AI, Hoyng CB, Cremers ...
  8. ... PubMed Catalog of Genes and Diseases from OMIM RETINITIS PIGMENTOSA 12; RP12 CRUMBS CELL POLARITY COMPLEX COMPONENT 1; CRB1 Gene and Variant Databases NCBI Gene ClinVar References den Hollander AI, Davis J, van der Velde- ...
  9. ... AND SINORESPIRATORY INFECTIONS WITH OR WITHOUT DEAFNESS; RPSRDF RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1 Gene and Variant Databases NCBI Gene ClinVar References Ayyagari R, Demirci FY, Liu J, Bingham EL, ...
  10. ... was identified as a modifier of RPGR- related retinitis pigmentosa [ Fahim et al 2012 ]. Table 8. IQCB1 Modifier Variants Discussed in This GeneReview View in own window DNA Nucleotide Change Predicted Protein Change Reference Sequences c.1178T>A p.Ile393Asn NM_001023570 ​. ...
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