{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004974647,0.0001322101,0.0002158836,0.0001359711,0.00003266915,0.00001491013,0.0004121036,0.0001126313,0.0003345579],"category_scores_gemma":[0.003481452,0.000126081,0.00005821252,0.0006029457,0.0001410144,0.000147648,0.00007461429,0.0002388447,0.0001038961],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008464243,"about_ca_system_score_gemma":0.0002447508,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.05086521,"about_ca_topic_score_gemma":0.044915,"domain_scores_codex":[0.9980705,0.0004619786,0.0003062242,0.0004572003,0.0002650565,0.0004389967],"domain_scores_gemma":[0.9988506,0.0002647062,0.00006088676,0.0004256327,0.00003860798,0.0003596071],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004196878,0.004242161,0.451254,0.0002687362,0.0000257253,0.002222476,0.01183846,0.007375633,0.3480089,0.03200691,0.02028699,0.1220503],"study_design_scores_gemma":[0.001543098,0.0004543015,0.9458744,0.00001479726,0.000008004235,0.000006425606,0.00009078615,0.002985639,0.005746674,0.03131193,0.01160328,0.0003606973],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9731602,0.00001583995,0.00002534038,0.000948802,0.0002958066,0.0002594562,0.00003892188,0.00004394686,0.02521165],"genre_scores_gemma":[0.9988194,0.000001423718,0.00009534989,0.0009657526,0.00003459578,0.00001734263,0.00000291155,0.00001258479,0.00005062916],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4946204,"threshold_uncertainty_score":0.9725128,"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."}}