{"id":"W1978952421","doi":"10.1038/eye.2012.125","title":"Outer retinal structural anomaly due to frameshift mutation in CACNA1F gene","year":2012,"lang":"en","type":"letter","venue":"Eye","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Frameshift mutation; Medicine; Genetics; Mutation; Anomaly (physics); Retinal Disorder; Ophthalmology; Retinal; Gene; Optometry; Biology; Physics","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.00009935511,0.000270228,0.0002155331,0.000107623,0.00003949255,0.00003909317,0.0002212253,0.00062799,0.0001337392],"category_scores_gemma":[0.00004413123,0.0002605137,0.00008623748,0.00008500624,0.00003430922,0.000004617323,0.0001028413,0.0004026407,0.0001135327],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002855307,"about_ca_system_score_gemma":0.00007040751,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005235929,"about_ca_topic_score_gemma":0.00005184049,"domain_scores_codex":[0.9986662,0.00006292186,0.0002507297,0.0004144698,0.0001886447,0.0004170037],"domain_scores_gemma":[0.9995283,0.000007283946,0.00008695197,0.0002675858,0.00004705698,0.00006284715],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001418474,0.00001630924,0.03170199,0.00009888645,0.00007082503,0.0005540874,0.0004418487,0.00001956748,0.01172722,0.000008359426,0.9523811,0.002837909],"study_design_scores_gemma":[0.000435949,0.0001447033,0.08908549,0.00003460875,0.00002318464,0.00005649775,0.00002764093,0.000005580081,0.009301454,0.000126889,0.9000628,0.0006951881],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9248033,0.0004972138,0.0002305209,0.07118094,0.000691222,0.0003285887,0.00003438963,0.00001310476,0.002220753],"genre_scores_gemma":[0.6743972,0.00002685002,0.004031827,0.3038438,0.004582141,0.00008341737,0.005198271,0.00009786142,0.007738706],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2504061,"threshold_uncertainty_score":0.9999847,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007010724838791663,"score_gpt":0.2439168492404145,"score_spread":0.2369061244016229,"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."}}