{"id":"W2119124845","doi":"10.1002/ana.10089","title":"Charcot‐Marie‐Tooth disease and related neuropathies: Mutation distribution and genotype‐phenotype correlation","year":2001,"lang":"en","type":"article","venue":"Annals of Neurology","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":279,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"National Institute of Neurological Disorders and Stroke; National Institute of Diabetes and Digestive and Kidney Diseases","keywords":"Peripheral myelin protein 22; Mutation; Biology; Myelin; Genetics; Myelin basic protein; Gene duplication; Mutant; Phenotype; Molecular biology; Gene; Endocrinology; Central nervous system","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":[0.0003365481,0.00047722,0.0004793553,0.001422658,0.0003321889,0.0004466938,0.0002753912,0.0007037467,0.003795328],"category_scores_gemma":[0.001633759,0.0003131456,0.0001900395,0.0007922951,0.0004024001,0.0002256841,0.000391509,0.0002896014,0.0006579339],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001917673,"about_ca_system_score_gemma":0.0001566976,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001363359,"about_ca_topic_score_gemma":0.0009392617,"domain_scores_codex":[0.9995413,0.00008340303,0.0000628048,0.0001781331,0.00006878503,0.00006568354],"domain_scores_gemma":[0.9989865,0.0004564039,0.0002152526,0.00007792566,0.00008755813,0.0001763187],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001137826,0.0002533318,0.9240112,0.00006432545,0.0001390432,0.01439551,0.0005201988,0.0002890972,0.04296454,0.0002237443,0.0004512494,0.01554984],"study_design_scores_gemma":[0.00006917725,0.0002390334,0.9560566,0.00001509438,0.00005524213,0.04078355,0.0001654099,0.0004647914,0.001443814,0.0001384693,0.000548337,0.000020548],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991004,0.000280342,0.0001297368,0.00001631439,0.000002438765,0.000007207303,0.00008638992,0.000006169891,0.000371049],"genre_scores_gemma":[0.9993483,0.0001058308,0.0001356235,0.00001843647,0.000008789698,0.00001044465,0.0001502315,0.000004807345,0.0002175671],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003795328,"threshold_uncertainty_score":0.01269662,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04345436302772088,"score_gpt":0.2789012716460486,"score_spread":0.2354469086183277,"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."}}