{"id":"W3047966126","doi":"10.1017/cjn.2019.175","title":"P.075 Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants","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":"Systems, Applications & Products in Data Processing (Canada); Toronto Public Health","funders":"","keywords":"Leukodystrophy; Craniofacial; Medicine; Hypogonadotropic hypogonadism; Pediatrics; Cohort; Hypodontia; Pathology; Disease; Internal medicine; Hormone; Dentistry","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["sts"],"consensus_categories":[],"category_scores_codex":[0.002883162,0.0002817702,0.0004935402,0.0004372319,0.0007013922,0.0002195018,0.001611647,0.0002967695,0.0003161074],"category_scores_gemma":[0.001017375,0.0002021076,0.0003661923,0.0008079761,0.004344692,0.0000922103,0.00007893225,0.0006245113,0.000007287315],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005854464,"about_ca_system_score_gemma":0.003558731,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005055833,"about_ca_topic_score_gemma":0.006283958,"domain_scores_codex":[0.995716,0.001019895,0.001185488,0.0005644224,0.0005763352,0.000937885],"domain_scores_gemma":[0.9966339,0.0001387965,0.001011205,0.0002286577,0.0002873245,0.001700135],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001585207,0.00006692124,0.9863495,0.00000574274,0.00003904993,0.0006514056,0.00004202933,0.001548085,0.007343513,0.0006109985,0.002105238,0.001079043],"study_design_scores_gemma":[0.001814233,0.1056514,0.8644303,0.00004246153,0.00008847284,0.00721875,0.0001713676,0.001283655,0.001034449,0.006656037,0.01091279,0.0006960795],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9936307,0.001430796,0.00002410545,0.002011162,0.001040967,0.0001537984,0.00003885657,0.000006631106,0.001663],"genre_scores_gemma":[0.9971607,0.0004377285,0.0002404066,0.00180226,0.0002024216,7.693393e-7,0.000002322653,0.00001265735,0.0001407379],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1219191,"threshold_uncertainty_score":0.9983649,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01983901288770784,"score_gpt":0.2684347763021055,"score_spread":0.2485957634143977,"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."}}