{"id":"W6957816113","doi":"10.60692/cthsj-19137","title":"Phenotypic continuum of NFU1‐related disorders","year":2022,"lang":"en","type":"article","venue":"Greater South Information System","topic":"Neurological diseases and metabolism","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill University Health Centre","funders":"Medical Research Council","keywords":"Hereditary spastic paraplegia; Phenotype; Hypotonia; Missense mutation; Paraplegia; Clinical phenotype; Genetic heterogeneity","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":[0.0002135399,0.0005753006,0.0004103995,0.001080985,0.0006871246,0.000479595,0.0004144076,0.000418961,0.003311752],"category_scores_gemma":[0.001499349,0.0001534839,0.0001501963,0.0005579498,0.0005261274,0.0003967546,0.001225818,0.0003865532,0.0003537445],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001928933,"about_ca_system_score_gemma":0.0002442323,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008729384,"about_ca_topic_score_gemma":0.0008683255,"domain_scores_codex":[0.99965,0.00006255093,0.00004188592,0.00009205587,0.00008362908,0.00006994445],"domain_scores_gemma":[0.9995946,0.000116799,0.0001065868,0.00002483332,0.00005265182,0.0001045881],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001189358,0.00039554,0.5827499,0.0001623297,0.0001592336,0.264647,0.004420707,0.0006105375,0.08607174,0.003776285,0.002206595,0.05361063],"study_design_scores_gemma":[0.00004977618,0.0003884219,0.4802944,0.00007940842,0.00006734744,0.5074943,0.001619622,0.0006830673,0.004082209,0.002485673,0.002720416,0.00003539324],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964367,0.0002053707,0.000324646,0.0001011088,0.000004519944,0.0000103293,0.0001158573,0.00002786122,0.002773673],"genre_scores_gemma":[0.9988991,0.000134868,0.0003257228,0.00005592728,0.00001031901,0.00001064982,0.0001648977,0.000006977878,0.0003915744],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003311752,"threshold_uncertainty_score":0.01107889,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02407544535702329,"score_gpt":0.2022752267220732,"score_spread":0.1781997813650499,"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."}}