{"id":"W3135897702","doi":"10.1111/cge.13955","title":"<scp> <i>GCH1</i> </scp> mutations in hereditary spastic paraplegia","year":2021,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; Montreal Neurological Institute and Hospital; SickKids Foundation; University of Toronto; McGill University; Hospital for Sick Children","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research","keywords":"Hereditary spastic paraplegia; Paraplegia; Spastic; Genetics; Mutation; Medicine; Neuroscience; Biology; Phenotype; Physical medicine and rehabilitation; Gene; Spinal cord; Cerebral palsy","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.0003140937,0.0002218021,0.0003685574,0.0000605028,0.00009134004,0.00004901734,0.000455008,0.0002692694,0.0001673555],"category_scores_gemma":[0.01809056,0.0002232851,0.0001925285,0.0007755148,0.0004807758,0.00007816018,0.0002460601,0.0007484755,0.0006868261],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001500379,"about_ca_system_score_gemma":0.0002115096,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003113069,"about_ca_topic_score_gemma":0.00005378245,"domain_scores_codex":[0.99643,0.0007930478,0.0009150799,0.0009081261,0.0003752992,0.0005784739],"domain_scores_gemma":[0.9922487,0.006675696,0.0001126433,0.0005772972,0.00006650161,0.0003191562],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00009713079,0.01231685,0.589566,0.0002468629,0.00009180397,0.03056482,0.001095641,0.03900223,0.07129839,0.005777458,0.1938534,0.05608941],"study_design_scores_gemma":[0.004097989,0.001575137,0.6675439,0.00006275966,0.0001089467,0.0002912623,0.0005170578,0.01659575,0.02364193,0.04059405,0.2444706,0.0005005761],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9874885,0.0004743364,0.0004056064,0.001309023,0.001855023,0.0002361751,0.00005276489,0.0001129846,0.008065575],"genre_scores_gemma":[0.9868964,0.0008064559,0.001202456,0.009959847,0.0003943225,0.00002470062,0.00002097798,0.0000380574,0.0006567787],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07797789,"threshold_uncertainty_score":0.9901805,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1021016836882705,"score_gpt":0.3538958138569235,"score_spread":0.251794130168653,"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."}}