{"id":"W4393131136","doi":"10.1002/mco2.469","title":"A novel in‐frame deletion in KIF5C gene causes infantile onset epilepsy and psychomotor retardation","year":2024,"lang":"en","type":"article","venue":"MedComm","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"CAE (Canada)","funders":"National Key Research and Development Program of China; National Health Commission of the People's Republic of China; National Natural Science Foundation of China","keywords":"Epilepsy; Psychomotor retardation; Psychomotor learning; Genetics; Medicine; Pediatrics; Psychology; Neuroscience; Biology; Pathology; Cognition","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":[0.0001573744,0.001347516,0.0004441603,0.0008226854,0.0005823158,0.000209973,0.000568516,0.001312746,0.00152743],"category_scores_gemma":[0.0004759961,0.0003319286,0.0005444823,0.0003812331,0.0006348003,0.0001580615,0.0005062572,0.0007602608,0.000361461],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004140885,"about_ca_system_score_gemma":0.0004357249,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002851293,"about_ca_topic_score_gemma":0.003027838,"domain_scores_codex":[0.9997998,0.0000178491,0.00002365569,0.00005556101,0.00004875971,0.00005441978],"domain_scores_gemma":[0.9996554,0.00009192451,0.0001017212,0.00001484829,0.00002405278,0.0001120518],"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":[0.0001786227,0.000085743,0.01202819,0.00005641711,0.00003752828,0.9113363,0.0002551076,0.0001945475,0.07258037,0.0002633997,0.000334754,0.002649086],"study_design_scores_gemma":[0.00006230154,0.0004500515,0.1218263,0.00004148302,0.0001468252,0.8420064,0.0002945657,0.001201935,0.03046294,0.0001575852,0.003304915,0.000044841],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970047,0.0003732194,0.001146812,0.0002371982,0.00004033798,0.00003675015,0.0002618698,0.00007105739,0.0008281921],"genre_scores_gemma":[0.9976237,0.0002211303,0.0008059763,0.0001028782,0.00003238923,0.0000145717,0.0001864551,0.00001990359,0.0009930113],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002851293,"threshold_uncertainty_score":0.005669415,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01044129312601134,"score_gpt":0.2536739621125916,"score_spread":0.2432326689865802,"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."}}