{"id":"W2986904455","doi":"10.1038/s41431-019-0539-6","title":"A variant of neonatal progeroid syndrome, or Wiedemann–Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL","year":2019,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":33,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; McGill University Health Centre; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research; Government of Canada","keywords":"Nonsense; Genetics; Nonsense mutation; Medicine; Biology; Mutation; Gene; Missense mutation","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":[0.001156533,0.0002370791,0.0004422835,0.0002175283,0.0000566835,0.00004421037,0.0004744306,0.00007554554,0.00009659969],"category_scores_gemma":[0.0001073729,0.0001787073,0.0001344651,0.0002431583,0.0001214823,0.00001040186,0.0001499488,0.0003383202,0.00001432094],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002757363,"about_ca_system_score_gemma":0.0002811599,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000008591543,"about_ca_topic_score_gemma":0.00003589693,"domain_scores_codex":[0.9976002,0.0004266533,0.0007709456,0.0002976233,0.0004675972,0.0004369756],"domain_scores_gemma":[0.9985193,0.00003107859,0.0005479343,0.000405799,0.0002963879,0.0001994819],"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":[0.001976584,0.0009226768,0.01747916,0.0002097025,0.001309115,0.09225728,0.0009986295,0.0008564371,0.8800309,0.00004666785,0.001564826,0.002348],"study_design_scores_gemma":[0.03173197,0.07846849,0.6097235,0.004034054,0.0004682285,0.1697073,0.002333911,0.00144155,0.0959994,0.0001386927,0.003324784,0.002628138],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981804,0.0005168378,0.000300611,0.00005996189,0.00006446797,0.0002707089,0.00002693028,0.000004346496,0.0005756711],"genre_scores_gemma":[0.9965796,0.0001199859,0.001292184,0.0001027751,0.00004762756,0.000001057554,0.00001637358,0.00006474467,0.001775645],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7840315,"threshold_uncertainty_score":0.7287471,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01523224868847124,"score_gpt":0.2500762847284091,"score_spread":0.2348440360399379,"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."}}