{"id":"W2156795736","doi":"10.1002/pd.2088","title":"Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling","year":2008,"lang":"en","type":"article","venue":"Prenatal Diagnosis","topic":"Alkaline Phosphatase Research Studies","field":"Medicine","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Mount Sinai Hospital","funders":"Agence de la Biomédecine","keywords":"Hypophosphatasia; Missense mutation; Prenatal diagnosis; Genetic counseling; Point mutation; Genetics; Mutation; Allele; Genetic heterogeneity; Biology; Gene; Medicine; Alkaline phosphatase; Pregnancy; Fetus; Biochemistry; Phenotype; Enzyme","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":[0.0003598253,0.0004717471,0.0002156322,0.001790285,0.0006050314,0.0003410711,0.00046877,0.0009367347,0.001870218],"category_scores_gemma":[0.003449449,0.0003782385,0.000239064,0.0004785412,0.0006197551,0.0003044362,0.0003798592,0.0003931927,0.0002079029],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004716579,"about_ca_system_score_gemma":0.0003340715,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001812529,"about_ca_topic_score_gemma":0.001119175,"domain_scores_codex":[0.9995957,0.00006527297,0.00004946677,0.0000791714,0.0001096784,0.000100838],"domain_scores_gemma":[0.9992193,0.0003939891,0.0001366638,0.00004173882,0.0000694694,0.0001388518],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0001851381,0.000197261,0.4130442,0.00007603272,0.00002341888,0.5522101,0.001372822,0.0003855788,0.01074914,0.0005091954,0.0005083741,0.02073884],"study_design_scores_gemma":[0.00003037861,0.0002915313,0.1348831,0.00004319974,0.0000645695,0.8489835,0.0008172083,0.001402477,0.01100247,0.0004147188,0.002040806,0.00002604513],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979137,0.0004987678,0.0006206603,0.0002004844,0.0000183676,0.00001343341,0.00004802052,0.00001537776,0.0006713406],"genre_scores_gemma":[0.9981645,0.000534463,0.0009849604,0.00005348411,0.00003142853,0.00001030016,0.00006286518,0.000003564069,0.0001544941],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001870218,"threshold_uncertainty_score":0.006256521,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03417489271186562,"score_gpt":0.3009691046132356,"score_spread":0.2667942119013699,"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."}}