{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003747997,0.001459514,0.00124607,0.001363424,0.001407437,0.0009345863,0.001251434,0.008850144,0.003219986],"category_scores_gemma":[0.004883748,0.0005545272,0.001101719,0.0006030937,0.002008204,0.001509133,0.0006938156,0.004196828,0.0007033193],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001926318,"about_ca_system_score_gemma":0.000479662,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002168813,"about_ca_topic_score_gemma":0.001594884,"domain_scores_codex":[0.999426,0.00008418851,0.00006042662,0.0001584903,0.0001262417,0.0001446775],"domain_scores_gemma":[0.9985552,0.0007122342,0.0002320108,0.0001203876,0.0001338967,0.000246207],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0001278735,0.00002347487,0.001347366,0.0000414928,0.00001811387,0.9891361,0.0000579605,0.0000973085,0.001835886,0.001029112,0.004781712,0.001503623],"study_design_scores_gemma":[0.0001459527,0.0001121139,0.005372782,0.00003672551,0.0000782812,0.9765901,0.0001168003,0.001963884,0.004384754,0.002808473,0.008351349,0.00003879993],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.6701868,0.01348253,0.009807797,0.2210225,0.0270772,0.0003042868,0.0009089681,0.001350514,0.05585958],"genre_scores_gemma":[0.9469091,0.002452515,0.003650342,0.01602266,0.0179061,0.00007014383,0.0001617936,0.0001227717,0.01270467],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008850144,"threshold_uncertainty_score":0.01397645,"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."}}