{"id":"W6976825865","doi":"10.60692/nqc0w-b2e22","title":"Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants inPOLR3A,POLR3BandPOLR1C","year":2023,"lang":"en","type":"article","venue":"Greater South Information System","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine; University of Ottawa; Montreal Neurological Institute and Hospital; Children's Hospital of Eastern Ontario; McGill University; Montreal Children's Hospital; Centre for Movement Disorders; Centre hospitalier universitaire de Québec; McGill University Health Centre","funders":"","keywords":"Craniofacial; Hypodontia; Leukodystrophy; Craniofacial abnormality; Treacher Collins syndrome; Chin","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001630452,0.0001842181,0.0002034751,0.0002057128,0.0001076019,0.00006241773,0.0001706678,0.0002197398,0.00002819972],"category_scores_gemma":[0.00002711508,0.0001637977,0.0001241637,0.0003264808,0.0000526451,0.00003019121,0.00006594517,0.00005612712,0.0002756749],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002427812,"about_ca_system_score_gemma":0.0000737256,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000186385,"about_ca_topic_score_gemma":3.567239e-7,"domain_scores_codex":[0.9987037,0.00006660861,0.0005444287,0.0001741617,0.0002672658,0.000243905],"domain_scores_gemma":[0.999096,0.000002328605,0.0002796329,0.0003457255,0.0001401534,0.0001361591],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002978697,0.00009998606,0.6228355,0.002750857,0.002687045,0.00004871506,0.0666078,0.006268458,0.1306321,0.004123364,0.1557388,0.005228787],"study_design_scores_gemma":[0.007392069,0.0002979054,0.9526225,0.000137772,0.000131544,0.00003815393,0.005469466,0.001812164,0.02546791,0.000009034836,0.005774745,0.0008467466],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9945471,0.00001086488,0.001027912,0.0001118792,0.0003935558,0.0003038885,0.0004530474,0.0001308721,0.00302091],"genre_scores_gemma":[0.9977684,0.000001222873,0.00001765807,0.0001082977,0.00007791971,0.00002358582,0.0006048461,0.00001563071,0.001382456],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.329787,"threshold_uncertainty_score":0.6679478,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01236737319110699,"score_gpt":0.2090959352339339,"score_spread":0.1967285620428269,"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."}}