{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002869577,0.0005340076,0.0003580521,0.0009895038,0.0004756853,0.0003312682,0.0002208297,0.0003822996,0.003142342],"category_scores_gemma":[0.0006195761,0.0002272073,0.0003197823,0.0004868641,0.0005069606,0.0001755262,0.0005901187,0.0002792357,0.0003390543],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002081965,"about_ca_system_score_gemma":0.0002018044,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001229432,"about_ca_topic_score_gemma":0.001793804,"domain_scores_codex":[0.9997208,0.00003588602,0.00004286422,0.00008225657,0.00005659373,0.00006153464],"domain_scores_gemma":[0.9996465,0.00008414302,0.0001390158,0.00002592053,0.00002313885,0.00008116192],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008272899,0.00008516015,0.8382125,0.00006233546,0.0001029131,0.09486439,0.0004359033,0.0001331518,0.05217196,0.0001585671,0.0003516423,0.01259429],"study_design_scores_gemma":[0.00002808899,0.000288146,0.7859727,0.00001716515,0.00005851814,0.2108534,0.0003113424,0.0001517952,0.001643455,0.00007634985,0.0005855275,0.00001348806],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998664,0.000234217,0.0001340194,0.00002276721,0.000003244721,0.00001252106,0.0001759944,0.00000769454,0.0007456219],"genre_scores_gemma":[0.99935,0.000115116,0.0001802462,0.0000284982,0.000007631567,0.000006311791,0.0001676225,0.000003382701,0.0001411868],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003142342,"threshold_uncertainty_score":0.01051211,"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."}}