{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002952475,0.0006529049,0.0003694815,0.001247229,0.0005079035,0.0003543475,0.0002182117,0.0004563303,0.003539384],"category_scores_gemma":[0.0005469762,0.0002591242,0.0003248141,0.0005712904,0.0005015337,0.0001731141,0.0006379174,0.0003114506,0.0003892322],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002480439,"about_ca_system_score_gemma":0.0002349265,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001437771,"about_ca_topic_score_gemma":0.002371897,"domain_scores_codex":[0.9996798,0.00003711843,0.00004788836,0.00009807312,0.00006738571,0.00006983389],"domain_scores_gemma":[0.9996833,0.00006759783,0.0001254575,0.00002336005,0.00002028417,0.00008005011],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001054808,0.0001060229,0.724793,0.00009364528,0.0001342066,0.1657416,0.0005607716,0.0001746918,0.08910904,0.0002594848,0.0004960177,0.01747671],"study_design_scores_gemma":[0.00003630255,0.000257112,0.6783051,0.0000239392,0.00006889065,0.3177079,0.00028897,0.0001777738,0.002217262,0.00008677804,0.0008132047,0.00001678701],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981118,0.0003368842,0.0001942279,0.00003575352,0.000004193723,0.00001872726,0.0002486842,0.00001204826,0.001037828],"genre_scores_gemma":[0.9989662,0.0001782452,0.0002942717,0.00004407966,0.000009989102,0.00001047043,0.0002370571,0.000005719445,0.000253925],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003539384,"threshold_uncertainty_score":0.0118404,"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."}}