{"id":"W4390277437","doi":"10.1016/j.jcjo.2023.11.022","title":"CACNA1F-related synaptic dysfunction: challenges diagnosing congenital stationary night blindness presenting without night blindness","year":2023,"lang":"en","type":"article","venue":"Canadian Journal of Ophthalmology","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"","keywords":"Medicine; Visual acuity; Nystagmus; Ophthalmology; Retrospective cohort study; Cohort; Pediatrics; Refractive error; Audiology; Surgery; Internal medicine","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002209918,0.001253585,0.001450273,0.002673684,0.001675703,0.003031371,0.003294929,0.003021601,0.002277713],"category_scores_gemma":[0.01137032,0.0006367909,0.0005263729,0.0009343428,0.001407391,0.002639451,0.001452805,0.003009741,0.001462362],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001747418,"about_ca_system_score_gemma":0.002304723,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02194128,"about_ca_topic_score_gemma":0.02793961,"domain_scores_codex":[0.9982271,0.0002216818,0.0003533895,0.000250887,0.0004891557,0.0004578079],"domain_scores_gemma":[0.9955825,0.001240339,0.0003734974,0.0001587253,0.001931316,0.0007136339],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.000481329,0.0003393375,0.5083303,0.0008593373,0.0001374799,0.2924812,0.001178701,0.001032521,0.01953682,0.002648504,0.02919951,0.1437749],"study_design_scores_gemma":[0.00007004316,0.0003009368,0.1670827,0.001996885,0.0002614569,0.7548236,0.0120738,0.009897467,0.008288513,0.01359608,0.03144081,0.0001676025],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8026823,0.05962528,0.02259248,0.06035275,0.004251883,0.000373861,0.001371139,0.0006430576,0.04810727],"genre_scores_gemma":[0.9602389,0.01469522,0.01540624,0.00510095,0.002164906,0.00005900635,0.0004797383,0.00008881849,0.001766123],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02194128,"threshold_uncertainty_score":0.04362714,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02719955627060314,"score_gpt":0.2671973208177765,"score_spread":0.2399977645471734,"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."}}