{"id":"W2039527297","doi":"10.1038/sj.ejhg.5200447","title":"Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration","year":2000,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Retinal Diseases and Treatments","field":"Medicine","cited_by":215,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia Hospital","funders":"","keywords":"Macular dystrophy; Macular degeneration; Biology; Dystrophy; Retinal pigment epithelium; Genetics; Retinal; Ophthalmology; Medicine","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000339202,0.001157431,0.0007169372,0.001432028,0.000698701,0.0005199374,0.0004723397,0.00143004,0.003492344],"category_scores_gemma":[0.001798183,0.0003415623,0.0004862846,0.0009027919,0.0009563436,0.0003583367,0.000728334,0.0006857279,0.0003995866],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003002022,"about_ca_system_score_gemma":0.000202844,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00118233,"about_ca_topic_score_gemma":0.00122073,"domain_scores_codex":[0.9994229,0.000105709,0.00007933214,0.0001494676,0.0001593874,0.00008324155],"domain_scores_gemma":[0.9984474,0.0004984406,0.0006157033,0.0000641446,0.00007713393,0.0002972172],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.006183099,0.000484386,0.3363243,0.0003338954,0.0008665551,0.2197806,0.001709614,0.0007584767,0.4119976,0.00229272,0.003007085,0.01626169],"study_design_scores_gemma":[0.0004314912,0.0004442687,0.6807705,0.00008672297,0.0002811904,0.2905303,0.0004823619,0.001349841,0.02050385,0.0008982155,0.00414248,0.00007873672],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9967533,0.0007318761,0.0005295576,0.0001743873,0.00006856825,0.00001230532,0.0003291926,0.00003397717,0.001366779],"genre_scores_gemma":[0.9985154,0.0001209595,0.0004146102,0.00005862841,0.00008037977,0.00000694068,0.0002232969,0.00001877422,0.0005609569],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003492344,"threshold_uncertainty_score":0.01168311,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01428965412295354,"score_gpt":0.2390905922340051,"score_spread":0.2248009381110516,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}