- ... Proband Genetic Risk Assessment Resources Management of Nonsyndromic Retinitis Pigmentosa References Chapter Notes GeneReviews Links GeneReviews Advanced Search GeneReviews ...
- ... 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 ...
- ... 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 ...
- ... Disorders View in own window Gene MOI Disorder Reference RPE65 AR Typical retinitis pigmentosa (RP type 20) 1 Nonsyndromic Retinitis Pigmentosa Overview ...
- ... like episodes National Library of Medicine Genetics Home Reference Neuropathy, ataxia, and retinitis pigmentosa United Mitochondrial Disease Foundation (UMDF) 8085 Saltsburg Road ...
- ... 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 ...
- ... 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 ...
- ... 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- ...
- ... 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, ...
- ... 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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