{"id":"W4376876618","doi":"10.1136/jmg-2023-109223","title":"Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in <i>POLR3A</i>, <i>POLR3B</i> and <i>POLR1C</i>","year":2023,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"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":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research; Children's Mercy Hospital; Children's Hospital Foundation; Fondation de l'Hôpital de Montréal pour enfants; Compute Canada; McGill University","keywords":"Craniofacial; Hypodontia; Leukodystrophy; Medicine; Craniofacial abnormality; Dermatology; Genetics; Pathology; Biology; Dentistry; Disease","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0005831618,0.0001695176,0.0003266573,0.0001616913,0.00003945995,0.00001930165,0.0003113532,0.0003688458,0.00005051399],"category_scores_gemma":[0.0003692673,0.0001474788,0.000129862,0.0003228723,0.000207123,0.000006315422,0.0001218264,0.000250952,0.000003477674],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001217848,"about_ca_system_score_gemma":0.0003278386,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002208643,"about_ca_topic_score_gemma":0.00001911101,"domain_scores_codex":[0.9978846,0.0001340137,0.0007125749,0.0001998495,0.0007970708,0.0002718504],"domain_scores_gemma":[0.9989414,0.00003551484,0.0002948642,0.0001865335,0.0001171028,0.0004245919],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0005171902,0.0004781472,0.03082006,0.0001270505,0.0002730809,0.0002891602,0.000322056,0.0005319539,0.8323869,0.0001956847,0.1165083,0.01755045],"study_design_scores_gemma":[0.03364138,0.003656923,0.7156194,0.0006348241,0.0004195078,0.0007935049,0.00100277,0.002627907,0.09354419,0.001683469,0.1447432,0.001632888],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9934018,0.003624887,0.0001499914,0.002050438,0.0003780436,0.0001037215,0.000042351,0.000007382023,0.0002414171],"genre_scores_gemma":[0.9929686,0.005667208,0.0001080897,0.0006077991,0.000258276,0.000001586375,0.00003693667,0.00002463906,0.0003268868],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7388427,"threshold_uncertainty_score":0.6014013,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007147501727208067,"score_gpt":0.2586304155934028,"score_spread":0.2514829138661948,"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."}}