{"id":"W4236011439","doi":"10.1017/cjn.2019.177","title":"P.079 4H leukodystrophy: a case series of siblings with an unusually mild phenotype","year":2019,"lang":"en","type":"article","venue":"Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Leukodystrophy; Medicine; Pediatrics; Context (archaeology); Neurological examination; Multiple sclerosis; Age of onset; Pathology; Surgery; Disease; Psychiatry; Biology","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004277847,0.001583785,0.000661869,0.001521008,0.002111442,0.0007841401,0.0006002471,0.001515792,0.004796121],"category_scores_gemma":[0.002947139,0.0007582808,0.0005616755,0.0009492238,0.001161556,0.0008978564,0.001231054,0.00117143,0.001084906],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007231612,"about_ca_system_score_gemma":0.0006701585,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002833478,"about_ca_topic_score_gemma":0.002493685,"domain_scores_codex":[0.9993729,0.00009086159,0.00008691797,0.0001804082,0.0001517671,0.0001171288],"domain_scores_gemma":[0.9984871,0.0003993624,0.0004482656,0.0001190344,0.0001169161,0.0004293667],"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":[0.00003035448,0.00004703932,0.03950075,0.00001855212,0.00001564531,0.9562514,0.0005365329,0.00005221656,0.001084911,0.0001592047,0.0005008568,0.001802597],"study_design_scores_gemma":[0.000007938048,0.00004645732,0.01472633,0.00000963186,0.00001125415,0.984029,0.0002170411,0.00009010876,0.0002458912,0.0001093705,0.0004985429,0.000008572197],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9911617,0.0005841384,0.001154535,0.0007240816,0.00007396843,0.00009368748,0.0002468087,0.00007884576,0.005882216],"genre_scores_gemma":[0.9979023,0.0002324258,0.0005304953,0.0002220203,0.0001075702,0.00002238343,0.0001059643,0.00002908301,0.0008477768],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004796121,"threshold_uncertainty_score":0.01604462,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01989704037051561,"score_gpt":0.2508138495664907,"score_spread":0.2309168091959751,"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."}}