{"id":"W2114756216","doi":"10.1038/ejhg.2011.8","title":"TSEN54 mutations cause pontocerebellar hypoplasia type 5","year":2011,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Fetal and Pediatric Neurological Disorders","field":"Medicine","cited_by":47,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; University of Toronto; SickKids Foundation; Mount Sinai Hospital","funders":"Hersenstichting","keywords":"Genetics; Biology; Mutation; Splice site mutation; Hypoplasia; Pons; Compound heterozygosity; Gene; Exon; Neuroscience; Anatomy; Alternative splicing","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":[0.000206146,0.0001101846,0.0001784559,0.00009908941,0.00007308999,0.00001029863,0.000142663,0.00002319415,0.0003907701],"category_scores_gemma":[0.00007313924,0.00008253202,0.0001083272,0.0001246735,0.00008294515,0.0000260451,0.00003489045,0.0002645481,0.0001757484],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008027024,"about_ca_system_score_gemma":0.00003750692,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":8.627516e-7,"about_ca_topic_score_gemma":0.000001250272,"domain_scores_codex":[0.9990067,0.0001361413,0.000405821,0.00009963023,0.0001971873,0.0001544833],"domain_scores_gemma":[0.9992367,0.00001997631,0.0002028135,0.0001525068,0.0001952193,0.0001927749],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004354766,0.006175652,0.551415,0.0004140171,0.002092091,0.05377142,0.02039064,0.0003536536,0.1130903,0.002132727,0.1752818,0.07052789],"study_design_scores_gemma":[0.003124294,0.01214594,0.9518331,0.000036252,0.0007505092,0.002035888,0.0003712205,0.00001904505,0.00229609,0.0009279572,0.02615105,0.0003086945],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9289812,0.0008995882,0.00005202791,0.0001127128,0.0001911478,0.00007474501,0.000001566527,0.0000160453,0.0696709],"genre_scores_gemma":[0.9966597,0.000397777,0.001330942,0.0004585494,0.0003298845,1.105862e-7,0.000002977613,0.00002812157,0.0007919293],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.400418,"threshold_uncertainty_score":0.4278658,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07839432246674108,"score_gpt":0.2742438528692415,"score_spread":0.1958495304025004,"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."}}