{"id":"W3055282444","doi":"10.1016/j.ejmg.2020.104037","title":"FLVCR1-related disease as a rare cause of retinitis pigmentosa and hereditary sensory autonomic neuropathy","year":2020,"lang":"en","type":"article","venue":"European Journal of Medical Genetics","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":"Foundation Fighting Blindness","keywords":"Retinitis pigmentosa; Medicine; Genetics; Biology; Ophthalmology; Retinal","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0004408828,0.0001526853,0.0002017442,0.00003847015,0.00003451616,0.00001628415,0.0003063262,0.00005729631,0.000119439],"category_scores_gemma":[0.0006988755,0.0001363434,0.0001015287,0.00006781085,0.0001882987,0.00000402506,0.000211564,0.0002300472,0.00001413866],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003986316,"about_ca_system_score_gemma":0.0002754809,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":6.178844e-7,"about_ca_topic_score_gemma":2.606279e-7,"domain_scores_codex":[0.9982064,0.0003691605,0.0005968192,0.0002026059,0.0004589419,0.0001660351],"domain_scores_gemma":[0.9987821,0.00002187953,0.0002656495,0.0001339604,0.00009448185,0.0007019226],"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":[0.007963752,0.001239341,0.1394584,0.00117541,0.002393351,0.05616543,0.007654293,0.001154271,0.4286916,0.0003112986,0.09768336,0.2561095],"study_design_scores_gemma":[0.02801922,0.01913129,0.4611407,0.001707494,0.001434686,0.006303869,0.00368743,0.003989054,0.0697189,0.0004690379,0.4012525,0.003145795],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9894949,0.005454727,0.0002132526,0.003486732,0.0002119085,0.00007045527,0.00001156623,0.000005610003,0.001050895],"genre_scores_gemma":[0.9916239,0.006130963,0.0003530195,0.0014161,0.000325625,2.697213e-7,0.00002090159,0.00003393298,0.00009531384],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3589727,"threshold_uncertainty_score":0.5559922,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01446012010015221,"score_gpt":0.233477292044526,"score_spread":0.2190171719443738,"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."}}