{"id":"W2172076332","doi":"10.1017/s0317167100004091","title":"Adrenomyeloneuropathy: Report of a New Mutation in a French Canadian Female","year":2005,"lang":"en","type":"article","venue":"Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques","topic":"Peroxisome Proliferator-Activated Receptors","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal General Hospital; Hôpital de l'Enfant-Jésus","funders":"","keywords":"Adrenoleukodystrophy; Missense mutation; Mutation; Exon; Genetics; Leukodystrophy; Spasticity; Medicine; Population; Compound heterozygosity; Pediatrics; Biology; Gene; Disease; Internal medicine; Physical therapy; Peroxisome","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":true,"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":[0.0002026211,0.00175533,0.0006953312,0.002802193,0.00595264,0.0009547658,0.001310714,0.003862925,0.005515134],"category_scores_gemma":[0.001348945,0.0005941177,0.0008201091,0.001725771,0.001554047,0.0005485712,0.00110281,0.00142827,0.0008043085],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.007671949,"about_ca_system_score_gemma":0.007049843,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.7055342,"about_ca_topic_score_gemma":0.7035722,"domain_scores_codex":[0.9995017,0.00002008738,0.00002617256,0.0001197711,0.0001405212,0.0001917834],"domain_scores_gemma":[0.9994425,0.00006367617,0.00006894288,0.0000190128,0.0001529779,0.0002528549],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0001210788,0.00009793909,0.03488928,0.00006955394,0.00002841716,0.9470358,0.001824169,0.0001434101,0.004658883,0.0006728251,0.002872199,0.007586552],"study_design_scores_gemma":[0.00004838334,0.000133621,0.05382988,0.00004050634,0.0000455501,0.9367183,0.001224565,0.0003991074,0.0006795115,0.0001555755,0.006649225,0.00007586556],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9759659,0.001976998,0.0008345819,0.004852027,0.0002950637,0.0001087389,0.0007814616,0.0001020089,0.01508331],"genre_scores_gemma":[0.991763,0.001118677,0.000765414,0.001038342,0.000134424,0.00001714717,0.000216014,0.00003520075,0.004911821],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7055342,"threshold_uncertainty_score":0.5923998,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02200555211421804,"score_gpt":0.2623743001431327,"score_spread":0.2403687480289146,"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."}}