{"id":"W3017256501","doi":"","title":"POLR3-Related Leukodystrophy","year":2017,"lang":"en","type":"article","venue":"Europe PMC (PubMed Central)","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"","keywords":"Hypogonadotropic hypogonadism; Leukodystrophy; Hypodontia; Medicine; Ataxia; Corpus callosum; Cerebellar ataxia; Spastic quadriplegia; Pediatrics; Pathology; Endocrinology; Cerebral palsy; Psychiatry","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":[0.0001790018,0.0006132459,0.0003453403,0.0006609774,0.0003289272,0.0004119883,0.0003315646,0.0005465603,0.006539551],"category_scores_gemma":[0.000468862,0.00009557955,0.0003764778,0.0006310819,0.0003314776,0.0002111307,0.0004373351,0.0003874807,0.001527639],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004595849,"about_ca_system_score_gemma":0.0003198976,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001680078,"about_ca_topic_score_gemma":0.001507684,"domain_scores_codex":[0.9998618,0.0000135366,0.00002153635,0.00003851767,0.00002957398,0.00003500314],"domain_scores_gemma":[0.9998568,0.0000212558,0.000046963,0.0000107521,0.00002345691,0.00004066534],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.002965239,0.0003123175,0.2300755,0.001659966,0.0002931732,0.3222086,0.001272149,0.001840286,0.2375129,0.0110361,0.0173154,0.1735084],"study_design_scores_gemma":[0.0001644223,0.0005530143,0.1821421,0.0003697607,0.000262652,0.7432116,0.000328171,0.0008945911,0.01530457,0.002533506,0.0541903,0.00004534416],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9244282,0.0121345,0.002978823,0.001197047,0.00008131429,0.0003120656,0.004210399,0.0006435454,0.05401403],"genre_scores_gemma":[0.9797699,0.002968848,0.001426519,0.0007859225,0.00005601363,0.00006084625,0.003697697,0.00005517731,0.01117899],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006539551,"threshold_uncertainty_score":0.02187699,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01057255038834459,"score_gpt":0.2224087167838764,"score_spread":0.2118361663955318,"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."}}