{"id":"W2934716016","doi":"10.1016/j.ajhg.2019.03.001","title":"Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia","year":2019,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":62,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital; McMaster University","funders":"National Institute of Neurological Disorders and Stroke; National Institutes of Health; Horizon 2020; Instituto de Salud Carlos III; Universiteit Antwerpen; Federación Española de Enfermedades Raras; Bundesministerium für Bildung und Forschung; Morris Animal Foundation","keywords":"Hereditary spastic paraplegia; Paraplegia; Spastic; Medicine; Physical medicine and rehabilitation; Mutation; Genetics; Biology; Spinal cord; Phenotype; Cerebral palsy; Gene; Psychiatry","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":[0.0001569641,0.001401933,0.0006279905,0.001086188,0.000765137,0.0003415774,0.0006013084,0.001311457,0.003208581],"category_scores_gemma":[0.0006428935,0.0002516048,0.000444305,0.0009051127,0.000715588,0.0002246844,0.0008291632,0.0006343585,0.0007998171],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004668952,"about_ca_system_score_gemma":0.0003351663,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001761294,"about_ca_topic_score_gemma":0.002284547,"domain_scores_codex":[0.9998199,0.00002529402,0.0000364534,0.00003530275,0.00004777337,0.00003519394],"domain_scores_gemma":[0.9995554,0.000103617,0.0001669318,0.00002560444,0.00003202561,0.000116327],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.002514085,0.0005623464,0.05582824,0.0004698696,0.0005603907,0.4606022,0.0008715782,0.002516776,0.4384539,0.003417538,0.005198913,0.02900411],"study_design_scores_gemma":[0.0003651968,0.0009357702,0.3445116,0.0002006491,0.0008339644,0.5276361,0.0006461354,0.007263982,0.1010996,0.003749179,0.01260468,0.0001531194],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9931393,0.0008308967,0.001172433,0.0002869433,0.0001158423,0.00003416352,0.0007434463,0.0001191041,0.003557916],"genre_scores_gemma":[0.9976612,0.0002091826,0.0005995796,0.00009449034,0.00004862044,0.00001093453,0.0002373553,0.0000242507,0.001114385],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003208581,"threshold_uncertainty_score":0.01073378,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03804177151817558,"score_gpt":0.2972817514422877,"score_spread":0.2592399799241122,"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."}}