{"id":"W2079774003","doi":"10.1002/ajmg.a.33438","title":"Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome","year":2010,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":49,"is_retracted":false,"has_abstract":true,"ca_institutions":"Health Sciences Centre; Hospital for Sick Children; Sunnybrook Health Science Centre; North York General Hospital; University of Toronto","funders":"Canadian Institutes of Health Research","keywords":"Hypertelorism; Medicine; Endocrinology; Internal medicine; Pediatrics; Psychology; Anatomy","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":[0.0003569123,0.002142661,0.0008821355,0.001588351,0.001757112,0.0008598217,0.0008811145,0.001453336,0.001735367],"category_scores_gemma":[0.002966674,0.001245416,0.0008452471,0.0007298176,0.001474067,0.00077109,0.001060439,0.0007842802,0.0004063825],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009921824,"about_ca_system_score_gemma":0.0003928527,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004455075,"about_ca_topic_score_gemma":0.004682113,"domain_scores_codex":[0.9993284,0.00007100802,0.00008980022,0.0001963749,0.0001497665,0.0001646611],"domain_scores_gemma":[0.9991058,0.0002535152,0.0002007727,0.00008009448,0.00009449612,0.0002653479],"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":[0.000348724,0.0003252351,0.1746603,0.00009689719,0.0001273874,0.7920007,0.003814348,0.0003309732,0.01202302,0.0005291181,0.000883875,0.01485946],"study_design_scores_gemma":[0.00008141118,0.0004671917,0.09853871,0.00002063552,0.00009487726,0.8968685,0.0004651953,0.0003400885,0.001402841,0.0002274197,0.001447244,0.00004590367],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974462,0.0005420081,0.0004663925,0.0001896209,0.00003109151,0.00002916513,0.0000443988,0.00003116659,0.001220102],"genre_scores_gemma":[0.9983782,0.0002850359,0.0004572737,0.0001836158,0.00004962184,0.00001763666,0.00005993648,0.00001066525,0.0005579445],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004455075,"threshold_uncertainty_score":0.008858323,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006072347216744651,"score_gpt":0.2506963051845459,"score_spread":0.2446239579678012,"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."}}