{"id":"W109891839","doi":"10.1007/978-1-4614-0631-0_48","title":"Congenital Stationary Night Blindness: Mutation Update and Clinical Variability","year":2011,"lang":"en","type":"article","venue":"Advances in experimental medicine and biology","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":24,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Calgary; Alberta Children's Hospital","funders":"","keywords":"Genetics; Retinal Disorder; Frameshift mutation; Strabismus; Visual acuity; Mutation; Medicine; Ophthalmology; Biology; Retinal; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001852255,0.0005344021,0.001098039,0.003642104,0.0002409592,0.001094466,0.001173749,0.001232474,0.001491852],"category_scores_gemma":[0.005882198,0.0001931949,0.0005101993,0.001917798,0.0004966101,0.001494247,0.0006478,0.0007410813,0.0006771507],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003218045,"about_ca_system_score_gemma":0.0005274948,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001044378,"about_ca_topic_score_gemma":0.001258648,"domain_scores_codex":[0.9991639,0.00008171082,0.0002875077,0.0001959029,0.0002147648,0.00005630118],"domain_scores_gemma":[0.9946213,0.00283639,0.0005603084,0.000342105,0.001385966,0.0002539186],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.0005052423,0.0001413472,0.06223295,0.0009830667,0.0003031257,0.02440205,0.0006493549,0.0006719548,0.01599619,0.001780931,0.02652142,0.8658124],"study_design_scores_gemma":[0.0001492258,0.0003948643,0.1434743,0.001263024,0.001325627,0.4429098,0.0006358463,0.002348942,0.01501246,0.004247652,0.3880612,0.0001770467],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"review","genre_gemma":"empirical","genre_scores_codex":[0.3747002,0.5333324,0.03081924,0.01945142,0.003763572,0.0001839033,0.004338178,0.001554043,0.03185708],"genre_scores_gemma":[0.6374317,0.3036849,0.02707562,0.008593038,0.006065069,0.0001427792,0.007540424,0.000508347,0.00895811],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.003642104,"threshold_uncertainty_score":0.009795785,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03261128917109055,"score_gpt":0.369548794959261,"score_spread":0.3369375057881704,"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."}}