{"id":"W1851604172","doi":"10.1002/mus.24640","title":"Phenotypic variability of CMT4C in a French‐Canadian kindred","year":2015,"lang":"en","type":"article","venue":"Muscle & Nerve","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa; McMaster University; McMaster University Medical Centre","funders":"","keywords":"Pes cavus; Scoliosis; Proband; Medicine; Weakness; Age of onset; Deformity; Pediatrics; Genetics; Surgery; Internal medicine; Biology; Gene; Mutation; Disease; Complication","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0004913037,0.002231468,0.0005452566,0.002409312,0.00343006,0.0006526062,0.0008309511,0.0009927531,0.00441781],"category_scores_gemma":[0.001708538,0.0003309904,0.0006231478,0.001958235,0.001206083,0.0002100493,0.0008991405,0.0004269913,0.0004251877],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0036213,"about_ca_system_score_gemma":0.003886385,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.5813245,"about_ca_topic_score_gemma":0.6180816,"domain_scores_codex":[0.9992792,0.00006806554,0.00004735192,0.0001828286,0.0002487062,0.0001737736],"domain_scores_gemma":[0.999321,0.0001588424,0.0001153562,0.00002780449,0.0002324304,0.0001446213],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00125568,0.0001540755,0.5211517,0.0003241349,0.000375719,0.3580892,0.0107068,0.001386646,0.05082825,0.002341912,0.008546242,0.04483959],"study_design_scores_gemma":[0.00009227657,0.0002104834,0.6748685,0.0001851362,0.0002949045,0.3051803,0.002834828,0.0009537164,0.002876158,0.0003573259,0.01201429,0.000131992],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9924495,0.0006116394,0.0004484947,0.0003192338,0.00003053927,0.00004025721,0.0007476191,0.00004106593,0.005311565],"genre_scores_gemma":[0.9968048,0.000321878,0.0007732433,0.0001359262,0.00001851955,0.0000159105,0.0003998549,0.00002186611,0.001507944],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4186755,"threshold_uncertainty_score":0.8422823,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06236183259967844,"score_gpt":0.2540341719259456,"score_spread":0.1916723393262672,"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."}}