{"id":"W1131748360","doi":"","title":"Clinical Phenotypes Associated with Specific Genotypes in Leber Congenital Amaurosis (LCA).","year":2004,"lang":"en","type":"article","venue":"Investigative Ophthalmology & Visual Science","topic":"Ocular Disorders and Treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre","funders":"","keywords":"Phenotype; Genotype; Amaurosis; Genetics; Medicine; Biology; Optometry; Gene","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":[0.0002642404,0.0007972593,0.0003686691,0.001459511,0.0005291979,0.0004610733,0.000227075,0.0006728291,0.003582542],"category_scores_gemma":[0.002097597,0.0002203127,0.0002641142,0.0007513253,0.0008746531,0.000345516,0.0005825165,0.000345087,0.000504354],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002670229,"about_ca_system_score_gemma":0.000301247,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001369305,"about_ca_topic_score_gemma":0.001549218,"domain_scores_codex":[0.9996558,0.00007602471,0.00004887979,0.00008243342,0.00006085939,0.00007598397],"domain_scores_gemma":[0.9991235,0.0002259572,0.0002989022,0.00004247226,0.00008127231,0.00022785],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003442729,0.0002145582,0.7222626,0.0002070587,0.0001859427,0.1548647,0.0007299784,0.0008453818,0.09032796,0.001360852,0.002877043,0.02268109],"study_design_scores_gemma":[0.00007762692,0.0003380713,0.7239567,0.00004128853,0.0001257015,0.2700121,0.0003455228,0.0003707525,0.003207505,0.0006091992,0.0008852883,0.00003026783],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9927263,0.0005857612,0.0004431584,0.0002451621,0.00001711727,0.00002941267,0.0003959254,0.00004088923,0.005516229],"genre_scores_gemma":[0.9989207,0.0001832671,0.0002795526,0.00005945647,0.00002443764,0.00001026462,0.0002137945,0.00001097936,0.0002975853],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003582542,"threshold_uncertainty_score":0.01198477,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03057517529259543,"score_gpt":0.3253985508462857,"score_spread":0.2948233755536903,"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."}}