{"id":"W2334969272","doi":"10.1016/j.ajhg.2016.03.021","title":"Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness","year":2016,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":62,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"Agence Nationale de la Recherche","keywords":"Genetics; Transducin; Biology; Visual phototransduction; Nonsense mutation; Frameshift mutation; Mutation; Compound heterozygosity; Gene; Retinal; Missense mutation; Signal transduction; G protein","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":[0.0001814298,0.0001038895,0.0001799485,0.0001118844,0.00005330281,0.000008843957,0.0002652663,0.00003002633,0.00001892731],"category_scores_gemma":[0.00005246988,0.00006368284,0.00007275516,0.000145971,0.0003855809,0.000006722988,0.00005042788,0.00006585383,0.000001571964],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001771503,"about_ca_system_score_gemma":0.0002197403,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001163342,"about_ca_topic_score_gemma":0.00009529077,"domain_scores_codex":[0.9990825,0.0001030377,0.000409597,0.00009692021,0.0001635078,0.0001444553],"domain_scores_gemma":[0.998985,0.0000469318,0.0005304423,0.000148837,0.0002362664,0.00005250409],"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":[0.000627671,0.000293189,0.07927527,0.00001672198,0.0003788975,0.00003586192,0.003049398,0.000261881,0.891522,0.0003207115,0.0006540451,0.02356428],"study_design_scores_gemma":[0.005821389,0.008180862,0.6066964,0.0002192667,0.000238623,0.0003146931,0.007861534,0.00005498108,0.3533851,0.01276269,0.003589394,0.0008751089],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978648,0.0003114363,0.001096231,0.0003916342,0.00004681664,0.00009126159,0.0000113561,0.000001658189,0.0001847424],"genre_scores_gemma":[0.9984173,0.0005206288,0.0007022077,0.00008738436,0.00006006,0.000004262638,0.0000102532,0.00001384557,0.0001841128],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.538137,"threshold_uncertainty_score":0.2596911,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0129486307204501,"score_gpt":0.2823817249975411,"score_spread":0.269433094277091,"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."}}