{"id":"W2162491971","doi":"10.1212/01.wnl.0000291779.35643.15","title":"Distal truncation of KCC3 in non–French Canadian HMSN/ACC families","year":2007,"lang":"en","type":"article","venue":"Neurology","topic":"Fetal and Pediatric Neurological Disorders","field":"Medicine","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hôpital de l'Enfant-Jésus","funders":"Canadian Institutes of Health Research; Radboud Universiteit","keywords":"Hereditary motor and sensory neuropathy; Agenesis of the corpus callosum; Genetics; Mutation; Population; Exon; Biology; Haplotype; Missense mutation; Mutant; Gene; Genotype; Medicine; Corpus callosum; Anatomy","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002356132,0.001366205,0.000300692,0.001655332,0.002938015,0.0004512246,0.000545903,0.0008803781,0.005662735],"category_scores_gemma":[0.0008286348,0.0002392594,0.0005318685,0.001431833,0.0008917043,0.0001503478,0.0004791992,0.00049026,0.000425225],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00372483,"about_ca_system_score_gemma":0.00380587,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.5779809,"about_ca_topic_score_gemma":0.6114138,"domain_scores_codex":[0.9996587,0.00002865157,0.00002384391,0.0001065091,0.00009796616,0.00008435391],"domain_scores_gemma":[0.999604,0.00008558713,0.00007500007,0.00002228351,0.0001102767,0.0001029561],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002201302,0.0003309863,0.5041926,0.0005190499,0.0004671123,0.2830912,0.009667382,0.002194773,0.1090485,0.004771592,0.009320972,0.07419442],"study_design_scores_gemma":[0.0001364466,0.0002898135,0.744987,0.0001412336,0.0003369883,0.2229938,0.001943008,0.001379252,0.01056235,0.0003867914,0.01673601,0.0001072944],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9937953,0.0005273706,0.0004062781,0.000206116,0.00002078194,0.00003236967,0.0005927669,0.00003926592,0.004379869],"genre_scores_gemma":[0.9972632,0.0002483993,0.0005779498,0.0001014893,0.00001396437,0.00001189537,0.0002850224,0.00001443478,0.001483667],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4220191,"threshold_uncertainty_score":0.8490088,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008194385861007637,"score_gpt":0.2345416158533649,"score_spread":0.2263472299923572,"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."}}