{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001305792,0.00008911949,0.0002010559,0.0002583949,0.00001982595,0.000001513978,0.00007106612,0.0001440244,0.000116209],"category_scores_gemma":[0.000120979,0.00007586597,0.00004620945,0.0002867996,0.0001027628,0.0000226848,0.00001656549,0.0002464163,0.00002108132],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001121497,"about_ca_system_score_gemma":0.00007570693,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.07299946,"about_ca_topic_score_gemma":0.2435877,"domain_scores_codex":[0.9991338,0.00002887762,0.0002411461,0.0001962415,0.00009692919,0.0003029763],"domain_scores_gemma":[0.999535,0.0001144266,0.00004292044,0.0001376612,0.00002889332,0.000141159],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006279661,0.0001804567,0.9781856,0.0000492928,0.000008008718,0.0004121007,0.0002455282,0.00002507403,0.002735286,0.0005055115,0.0008524022,0.0161728],"study_design_scores_gemma":[0.0006718754,0.001228336,0.9897737,0.000001021274,0.00001241937,0.00003240423,0.00000899361,0.00007332756,0.00009964949,0.000290118,0.00775406,0.00005413059],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9800656,0.00006883347,0.00002454683,0.003473004,0.0001978389,0.0001764847,0.000007921175,0.00001386406,0.01597189],"genre_scores_gemma":[0.9959079,0.00004729617,0.00002025639,0.003828655,0.00006173494,0.000004421646,0.00002141692,0.000007531117,0.0001007761],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1705883,"threshold_uncertainty_score":0.9331735,"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."}}