{"id":"W2129215725","doi":"","title":"A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.","year":2011,"lang":"en","type":"article","venue":"PubMed","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":28,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"","keywords":"Proband; Photophobia; Genetics; Electroretinography; Ophthalmology; Hypoplasia; Medicine; Biology; Internal medicine; Retinal; Mutation","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":[0.0001078161,0.0001114816,0.00009725985,0.00009737524,0.00002826818,0.00001720299,0.00006284256,0.0000549308,0.000005819224],"category_scores_gemma":[0.00006956833,0.0001061865,0.0000176045,0.0001001455,0.00005839853,0.00001287384,0.00004718254,0.0000445144,0.000001459918],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001142673,"about_ca_system_score_gemma":0.00005287549,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002115187,"about_ca_topic_score_gemma":0.00172106,"domain_scores_codex":[0.9992735,0.00002878025,0.0001697381,0.0002395717,0.00008347186,0.0002048932],"domain_scores_gemma":[0.9997499,0.00001092739,0.00004208543,0.00008085042,0.00003299843,0.00008325218],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001120076,0.0002933762,0.984447,0.00005016114,0.00004914515,0.00004944008,0.001032102,0.0000159513,0.005272542,0.00007575936,0.00009732127,0.007497123],"study_design_scores_gemma":[0.001459969,0.00002500562,0.9970194,0.000005083264,0.000009667855,0.000001507943,0.0002049833,0.00003586014,0.0004758658,0.0002619525,0.0003412872,0.0001594502],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975219,0.0007376896,0.0001994823,0.00004637594,0.00005604042,0.0003967152,0.00004240183,0.000005404973,0.0009939913],"genre_scores_gemma":[0.9988218,0.00009811229,0.000162507,0.0001096775,0.00002405155,0.0003614885,0.0002272679,0.00001100708,0.0001841207],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01257236,"threshold_uncertainty_score":0.433016,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02267019666930703,"score_gpt":0.2187286525750029,"score_spread":0.1960584559056959,"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."}}