{"id":"W4321094922","doi":"10.1002/mdc3.13702","title":"CAMK4‐related Case of Hyperkinetic Movement Disorder","year":2023,"lang":"en","type":"article","venue":"Movement Disorders Clinical Practice","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; University of Toronto; Hospital for Sick Children","funders":"","keywords":"Hypotonia; Proband; Pediatrics; Family history; Global developmental delay; Dystonia; Movement disorders; Intellectual disability; Neurology; Medicine; Psychiatry; Neuroscience; Psychology; Phenotype; Genetics; Internal medicine; Mutation; Biology","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":[0.0002663417,0.002555752,0.001565188,0.003362187,0.003810466,0.0009429735,0.002561052,0.004806289,0.004157105],"category_scores_gemma":[0.002410513,0.00114148,0.001422622,0.002418179,0.002281232,0.001532279,0.002263257,0.003072079,0.0008926292],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002499954,"about_ca_system_score_gemma":0.001691447,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008906142,"about_ca_topic_score_gemma":0.008827202,"domain_scores_codex":[0.9990809,0.00005299852,0.00008210662,0.0003231953,0.0001364386,0.0003243263],"domain_scores_gemma":[0.9989992,0.0002286125,0.0002127297,0.00007413091,0.0001075241,0.0003778573],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00001290823,0.00001674769,0.001810472,0.00001539524,0.00000480365,0.9968268,0.00009211686,0.00004029349,0.0004458442,0.0001091968,0.0001505524,0.0004747335],"study_design_scores_gemma":[0.00000854347,0.00003610734,0.003222532,0.00001227213,0.00001148763,0.9957349,0.00007014921,0.0001500863,0.0002560867,0.0001534727,0.0003361368,0.000008165199],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9641498,0.005081708,0.004141944,0.004589693,0.0005875358,0.0006442507,0.0008180716,0.0003546992,0.01963213],"genre_scores_gemma":[0.9937025,0.0007935041,0.00117296,0.001268097,0.0004056461,0.00006428876,0.0001790441,0.0000423999,0.002371633],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008906142,"threshold_uncertainty_score":0.01813853,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0162776971670392,"score_gpt":0.3451375871201615,"score_spread":0.3288598899531223,"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."}}