{"id":"W2094343526","doi":"10.1097/01.mat.0000249036.00121.42","title":"Shprintzen (Velo-Cardio-Facial) Syndrome: A Rare Case","year":2006,"lang":"en","type":"article","venue":"ASAIO Journal","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"College of Family Physicians of Canada","funders":"","keywords":"Medicine; Tetralogy of Fallot; Pediatrics; Facial dysmorphism; Genetic counseling; Heart defect; Genetic syndromes; Intellectual disability; Genetic testing; Psychiatry; Heart disease; Pathology; Genetics; Internal medicine","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002556152,0.001856493,0.0009271001,0.001828369,0.001950412,0.0015353,0.001007207,0.004505041,0.002910351],"category_scores_gemma":[0.00261732,0.00130281,0.0005944032,0.001401908,0.002491637,0.001444314,0.001988752,0.001654671,0.0007333418],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007253436,"about_ca_system_score_gemma":0.0007250641,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002298089,"about_ca_topic_score_gemma":0.002861108,"domain_scores_codex":[0.9993749,0.00005353544,0.00004765021,0.000167287,0.0001006426,0.0002559829],"domain_scores_gemma":[0.9985018,0.0003965583,0.0003300089,0.00016189,0.00003788461,0.0005719683],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00003306083,0.00003341868,0.006890075,0.00002145437,0.00001527136,0.9892845,0.0001352973,0.00005707461,0.001235063,0.0002928531,0.0003052914,0.001696617],"study_design_scores_gemma":[0.00002454464,0.00004887507,0.005376633,0.000005569794,0.00000998721,0.9936334,0.00007612407,0.0001331525,0.0002359981,0.0001586349,0.000287086,0.000009990754],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9904123,0.001835943,0.001626389,0.0009287628,0.0001096738,0.00007567063,0.0001666651,0.0001965166,0.004648095],"genre_scores_gemma":[0.9968287,0.0006963081,0.0009292362,0.0002617105,0.0001736106,0.00003447281,0.00008236209,0.00001947166,0.0009740022],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004505041,"threshold_uncertainty_score":0.009736061,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009385197828599213,"score_gpt":0.2655514796335782,"score_spread":0.256166281804979,"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."}}