{"id":"W1982859547","doi":"10.1001/archopht.125.1.128","title":"Analyses of a Novel L130F Missense Mutation in FOXC1","year":2007,"lang":"en","type":"article","venue":"Archives of Ophthalmology","topic":"Developmental Biology and Gene Regulation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"","keywords":"Missense mutation; Mutation; Genetics; Biology; Medicine; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001776565,0.00007751471,0.0001758682,0.0001430372,0.00001274186,5.997384e-7,0.00008373713,0.00009504455,0.00001122146],"category_scores_gemma":[0.00007739568,0.00007261126,0.00006685394,0.00008566,0.0001860259,0.000001773092,0.00004709305,0.00003588657,6.504123e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002376912,"about_ca_system_score_gemma":0.00003199762,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004120432,"about_ca_topic_score_gemma":0.00001322085,"domain_scores_codex":[0.9993103,0.00004317335,0.0003063645,0.0001654255,0.0000399211,0.0001347746],"domain_scores_gemma":[0.999625,0.0000735931,0.0001351677,0.0001227686,0.00002015125,0.00002333915],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0004818042,0.00012539,0.0334282,0.00001788514,0.00004700261,0.00003563643,0.0001023093,0.00015442,0.9638109,0.0001217048,0.000003173261,0.001671574],"study_design_scores_gemma":[0.000545663,0.000195604,0.3784885,0.00001102237,0.000005236736,0.0006112193,0.00005691713,0.00002733176,0.6196234,0.0003656195,0.00001553103,0.0000540608],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9911397,0.0002174276,0.00234693,0.00002047836,0.00004109149,0.00008961649,0.000005696782,0.000001418462,0.006137657],"genre_scores_gemma":[0.9911518,0.0000103989,0.008500393,0.000009591651,0.00001696892,0.000002584536,0.0001129576,0.000005042959,0.0001902786],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3450603,"threshold_uncertainty_score":0.2961001,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03409944063891774,"score_gpt":0.349631697969787,"score_spread":0.3155322573308693,"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."}}