{"id":"W3205442131","doi":"10.3390/children8100909","title":"Expanding the Phenotypic Spectrum of ECEL1-Associated Distal Arthrogryposis","year":2021,"lang":"en","type":"article","venue":"Children","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"","keywords":"Arthrogryposis; Medicine; Anatomy; Hypotonia; Spastic quadriplegia; Cerebral palsy; Internal medicine; Physical medicine and rehabilitation","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009777163,0.00008179505,0.0001789744,0.00003224875,0.00008647735,0.00001356184,0.00008488186,0.00004069581,0.00034972],"category_scores_gemma":[0.0001285197,0.00005731348,0.0001391736,0.0002685893,0.0001036976,0.0000146025,0.00007611184,0.0001540123,0.00002024202],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001970028,"about_ca_system_score_gemma":0.0001032363,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003241263,"about_ca_topic_score_gemma":0.00003432372,"domain_scores_codex":[0.9991323,0.00006114383,0.0001429859,0.0001745966,0.000271591,0.0002173199],"domain_scores_gemma":[0.9995062,0.00004029627,0.00003958691,0.0002964668,0.0000508634,0.00006662275],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0000942312,0.0008976954,0.9398766,0.00005374493,0.0009068446,0.0000590516,0.0008254985,0.00001343219,0.03970111,0.0007830751,0.002580362,0.01420835],"study_design_scores_gemma":[0.001287564,0.0001082235,0.9070535,0.00004998126,0.0001099472,0.00005025989,0.0001889371,0.00002001872,0.09044938,0.0002990072,0.0003053678,0.0000778692],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9928603,0.001892566,0.00008300658,0.001590887,0.0000478183,0.0002425108,0.0000119215,0.00002109049,0.003249962],"genre_scores_gemma":[0.9986992,0.0002764926,0.00003585223,0.0001570365,0.00005984055,0.00000696536,0.00006864824,0.00001668022,0.0006793086],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05074827,"threshold_uncertainty_score":0.3829188,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01234054369411077,"score_gpt":0.2721751789295065,"score_spread":0.2598346352353957,"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."}}