{"id":"W2125698769","doi":"10.1002/1096-8628(20001023)94:5<428::aid-ajmg16>3.0.co;2-m","title":"Phenotype of a patient with pure partial trisomy 2p(p23?pter)","year":2000,"lang":"en","type":"review","venue":"American Journal of Medical Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":23,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Children's Hospital; McGill University","funders":"McGill University Health Centre","keywords":"Hypoplasia; Anatomy; Medicine; Esotropia; Hypotonia; dup; Ophthalmology; Biology; Internal medicine; Gene duplication","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":[0.0002517771,0.000302986,0.001203936,0.00009085557,0.00003443496,0.00001587095,0.0005568096,0.0002473315,0.0002415467],"category_scores_gemma":[0.00005327014,0.0002048116,0.0003945078,0.0001811902,0.000396451,0.000002189269,0.0000945001,0.00036671,0.000004820534],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002265888,"about_ca_system_score_gemma":0.001389938,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001062622,"about_ca_topic_score_gemma":0.000004190176,"domain_scores_codex":[0.9974602,0.0002310127,0.001083809,0.0002184111,0.0007406246,0.0002659386],"domain_scores_gemma":[0.9978775,0.00003720201,0.001304397,0.0003258101,0.000156402,0.0002987185],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00008777291,0.0001389075,0.00002693513,0.0004374168,0.0004674315,0.00004698589,0.0001087001,0.00003070559,0.000006492031,0.00001334521,0.0004458045,0.9981895],"study_design_scores_gemma":[0.0003903041,0.003848118,0.000004390654,0.001442203,0.0006220991,0.0008276473,0.0002076437,0.000002921702,0.0001296496,0.00000704038,0.9922734,0.0002445127],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.02164263,0.9773088,0.0004042657,0.00007583181,0.0001691129,0.0001645914,0.00005115527,0.000002280817,0.0001813802],"genre_scores_gemma":[0.01637504,0.9813983,0.001309927,0.00009950181,0.0006745074,0.000008209214,0.00004777838,0.00004246406,0.00004423584],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.997945,"threshold_uncertainty_score":0.8351974,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00974508838821087,"score_gpt":0.2687301063639896,"score_spread":0.2589850179757787,"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."}}