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Proper Citation: eyeGENE (RRID:SCR_004523)
Description: National network of research laboratories for genetic testing of eye disease. They offer testing for affected individuals coupled to registry of clinical information available through patient registry. Large data set for investigators to identify additional genetic risk factors and to explore relationship between genetic disease (genotype) and its clinical manifestation (phenotype).
Abbreviations: eyeGENE
Synonyms: eyeGENE, National Ophthalmic Disease Genotyping Network (eyeGENE), National Ophthalmic Disease Genotyping Network (eyeGENETM), National Ophthalmic Disease Genotyping Network
Resource Type: biomaterial supply resource, material resource
Defining Citation: PMID:22847030
Keywords: familial exudative vitreal retinopathy, fzd4, foxc1, abca4, aniridia, pax6, axenfeld - rieger syndrome, pitx2, best's disease, vmd2, bietti's crystalline corneal-retinal dystrophy, cyp4v2, c1qtnf5/ ctrp5, ca4, choroideremia, chm, cnga1, cone rod dystrophy, abca4, congenital cranial dysinnervation disease, kif21a, congenital stationary night blindness, nyx, corneal anterior stromal dystrophy, bigh3, crb1, doyne honeycomb dystrophy, efemp1, glaucoma, cyp1b1, hoxa1, impdh1, juvenile x-linked retinoschisis, xlrs1, krt12, lrp5, meesmann's epithelial dystrophy, krt3, mertk, myoc, ndp, optic atrophy, opa1, optn, pantothenate kinase-associated neuropathy, pank2, pattern dystrophy, rds, pde6a, pde6b, phox2a, prpf31, retinitis pigmentosa, retinal degeneration, abca4, rgr, rho, rlbp1, robo3, rp1, rp2, rpe65, rpgr, sall4, sorsby fundus dystrophy, timp3, stargardt disease, elovl4, tulp1, genotype, phenotype, diagnostic, genotyping, clinical trial, genetic eye disease, blood, dna, cell line, genetic testing, treatment, genetics, ophthalmic disease, eye
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