RPE65 gene
Overview LCA/EOSRD Retinitis pigmentosa Multimodal imaging References Overview Gene (OMIM no.) RPE65 (#180069) Function of gene/protein Protein: retinoid isomerase Recycling...
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- early onset severe retinal dystrophy
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CEP290 gene
Overview LCA/EOSRD Bardet-Biedl syndrome Additional information Multimodal imaging References Overview Gene (OMIM No.) CEP290 (#610142) Function of gene/protein Protein: Centrosomal... -
AIPL1 gene
Overview LCA/EOSRD Additional information References Overview Gene (OMIM No.) AIPL1 (#604392) Function of gene/protein Protein: Aryl-hydrocarbon-interacting-protein-like 1 Photoreceptor development Involved... -
RDH12 gene
Overview LCA/EOSRD Retinitis pigmentosa Additional information Multimodal imaging References Overview Gene (OMIM No.) RDH12 (#608830) Function of gene/protein Protein: retinal... -
CEP164 gene
Overview LCA/EOSRD Additional information References Overview Gene (OMIM No.) CEP164 (#614845) Function of gene/protein Protein: Centrosomal protein 164 Microtubule organization... -
SPATA7 gene
Overview LCA/EOSRD Retinitis pigmentosa References Overview Gene (OMIM no.) SPATA7 (#609868) Function of gene/protein Protein: Spermatogenesis-associated protein 7 Two isoforms...