{"id":"W2089704862","doi":"10.1016/j.ajhg.2010.08.013","title":"A Mutation in SLC24A1 Implicated in Autosomal-Recessive Congenital Stationary Night Blindness","year":2010,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":83,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta","funders":"National Institute on Deafness and Other Communication Disorders; National Eye Institute","keywords":"Genetics; Biology; Retinal Disorder; Exon; Mutation; Night vision; Retina; Frameshift mutation; Gene; Neuroscience","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":[0.0002426699,0.0001061005,0.0001579582,0.0001264937,0.00004827824,0.00002090283,0.0002708535,0.00003935724,0.00001603756],"category_scores_gemma":[0.00004349805,0.00008167076,0.00004775954,0.0002107236,0.0002324354,0.000005671229,0.00004285529,0.0002174231,0.000002544345],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001179738,"about_ca_system_score_gemma":0.0001427931,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002108346,"about_ca_topic_score_gemma":0.0002731309,"domain_scores_codex":[0.9991088,0.00008948332,0.0003735661,0.0001192072,0.0001464852,0.0001624922],"domain_scores_gemma":[0.999277,0.00002360502,0.000375913,0.0001372683,0.0001371837,0.00004902081],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0003574335,0.0001691037,0.1065814,0.000005143501,0.00005477153,0.00004571654,0.00117461,0.0004129643,0.8765489,0.00005821972,0.0002275186,0.01436423],"study_design_scores_gemma":[0.001655626,0.001408239,0.941056,0.00001697914,0.00002478737,0.0002100697,0.002300344,0.0001377277,0.05046985,0.001551261,0.0008862226,0.0002828916],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998992,0.0001983062,0.00009943844,0.0002905962,0.00008305223,0.000098451,0.000003036106,0.000001864428,0.0002332174],"genre_scores_gemma":[0.9989561,0.0000924242,0.0006342975,0.0001397599,0.00008045979,0.000005319231,0.00002396623,0.0000137125,0.00005397551],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8344746,"threshold_uncertainty_score":0.3330437,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007226657874395202,"score_gpt":0.2758359551290839,"score_spread":0.2686092972546887,"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."}}