{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001719274,0.0002690819,0.0004751754,0.0001381197,0.0002335272,0.00001608712,0.0001316341,0.00008063679,0.00003837559],"category_scores_gemma":[0.004331714,0.0001866504,0.0000970516,0.0003574019,0.0004446491,0.000154491,0.0003211503,0.0002306659,0.00001064055],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005524788,"about_ca_system_score_gemma":0.000140273,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005687909,"about_ca_topic_score_gemma":0.00000963486,"domain_scores_codex":[0.9979505,0.00005401551,0.0004335516,0.0004744189,0.0006482007,0.0004393006],"domain_scores_gemma":[0.9979672,0.00096765,0.0001396889,0.0003760043,0.0002258187,0.0003235689],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003142708,0.0006851322,0.9071986,0.002963173,0.0004326465,0.00855036,0.001315827,0.00008787298,0.001756101,0.00007756508,0.003016607,0.07360181],"study_design_scores_gemma":[0.004834448,0.001764546,0.6249256,0.004289129,0.0007675629,0.005043082,0.000624243,0.001827251,0.3529946,0.0003702558,0.001692828,0.0008665021],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.892753,0.1055319,0.00009706087,0.0004297019,0.00005006971,0.0006081008,0.0003707771,0.00007181601,0.00008757676],"genre_scores_gemma":[0.9762331,0.0168347,0.006357263,0.0000993962,0.00007240097,0.0002130821,0.0001105102,0.00004049491,0.0000390503],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3512385,"threshold_uncertainty_score":0.7611383,"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."}}