{"id":"W3093919051","doi":"10.18821/1993-1859-2016-11-1-14-22","title":"The spectrum of mutations in the patients presenting with ABCA4-associated Stargardt's disease in a Russian population","year":2016,"lang":"en","type":"article","venue":"Russian Pediatric Ophthalmology","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Royal Canadian Military Institute","funders":"","keywords":"Stargardt disease; ABCA4; Population; Fundus (uterus); Macular dystrophy; Medicine; Ophthalmology; Genetics; Gene mutation; Disease; Biology; Gene; Mutation; Pathology; Retinal","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002513736,0.0001194192,0.0001146331,0.00009568848,0.00008835155,0.00001344581,0.0002163995,0.00007985253,0.00001221393],"category_scores_gemma":[0.0001954787,0.00006071037,0.00004268674,0.0002981035,0.00006968916,0.000008469166,0.00004759067,0.00006856191,0.000002897893],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002386786,"about_ca_system_score_gemma":0.0000910656,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001156546,"about_ca_topic_score_gemma":0.0001500457,"domain_scores_codex":[0.9988208,0.0002099684,0.0002917605,0.0002276486,0.0001611223,0.0002886829],"domain_scores_gemma":[0.9994729,0.00008427183,0.0001797252,0.0002054641,0.00001647489,0.00004122428],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001443987,0.0001277646,0.9990422,0.000007888388,0.00000950427,0.00001860628,0.00007742259,0.00001712408,0.00001980943,0.0004461783,0.00002816046,0.00006101461],"study_design_scores_gemma":[0.0008832657,0.000139146,0.9970188,0.000005748413,0.00001510609,0.000004477084,0.000042174,0.00000864889,0.00002229042,0.001723879,0.00003519183,0.0001012992],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968331,0.0001332132,0.00001020188,0.001092944,0.00005956699,0.0003087882,0.00001448625,0.000003398744,0.001544274],"genre_scores_gemma":[0.9995167,0.00007525212,0.00002980322,0.00001511337,0.00004771558,0.00004005386,0.0001133471,0.00001212949,0.0001498599],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002683599,"threshold_uncertainty_score":0.2475697,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005419071925630298,"score_gpt":0.2293850046481281,"score_spread":0.2239659327224978,"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."}}