{"id":"W6920285802","doi":"10.60692/9pz2a-rt671","title":"Phenotypic continuum of NFU1‐related disorders","year":2022,"lang":"en","type":"article","venue":"UCL Discovery (University College London)","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":[0.0002429061,0.0006654109,0.0004630293,0.00104159,0.0006671157,0.0005104289,0.0004403724,0.0004694045,0.002808025],"category_scores_gemma":[0.001549429,0.0001833397,0.0001745874,0.0005579574,0.0005923745,0.0004165554,0.001290507,0.0004002313,0.0003600454],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001988512,"about_ca_system_score_gemma":0.0002273761,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000798618,"about_ca_topic_score_gemma":0.0007672101,"domain_scores_codex":[0.9996253,0.00006607446,0.00004262517,0.0001006641,0.00008759399,0.00007765127],"domain_scores_gemma":[0.9995435,0.0001346815,0.0001084236,0.00002687644,0.00006059409,0.0001258497],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001517018,0.0003811223,0.5157945,0.0002126188,0.0001846895,0.3225018,0.003901944,0.0007765449,0.09082422,0.003693301,0.002674699,0.05753759],"study_design_scores_gemma":[0.00006919386,0.0004481764,0.4054196,0.00009860143,0.00007248054,0.582512,0.001457787,0.0007211768,0.003828082,0.002289139,0.003044505,0.00003936116],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960763,0.0003006851,0.0003652195,0.0001190804,0.000005976998,0.00001351259,0.0001247006,0.00003527544,0.002959269],"genre_scores_gemma":[0.9988002,0.0001761665,0.0003501702,0.0000696549,0.0000141235,0.00001314345,0.0001780037,0.000008344805,0.0003901239],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002808025,"threshold_uncertainty_score":0.009393811,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008595331600233893,"score_gpt":0.186827000132483,"score_spread":0.1782316685322491,"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."}}