{"id":"W1981261615","doi":"10.1007/s100380300003","title":"DNA polymorphism and mutations in CPN1, including the genomic basis of carboxypeptidase N deficiency","year":2003,"lang":"en","type":"article","venue":"Journal of Human Genetics","topic":"Coagulation, Bradykinin, Polyphosphates, and Angioedema","field":"Medicine","cited_by":30,"is_retracted":false,"has_abstract":false,"ca_institutions":"Robarts Clinical Trials","funders":"Canadian Institutes of Health Research; Canada Research Chairs; Heart and Stroke Foundation of Canada","keywords":"Genetics; Missense mutation; Biology; genomic DNA; Exon; Mutation; Single-nucleotide polymorphism; Molecular biology; Genotype; DNA; Gene","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":[0.0003728691,0.00009051168,0.000228588,0.0002018133,0.0001063308,0.00001370688,0.00007544002,0.00004373686,0.00004980038],"category_scores_gemma":[0.00009019477,0.00006714447,0.00008211062,0.0001624152,0.0001128538,0.0000357862,0.00002079882,0.0001265069,7.916163e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004591559,"about_ca_system_score_gemma":0.0001303243,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002261589,"about_ca_topic_score_gemma":0.00004234712,"domain_scores_codex":[0.9990051,0.00005349065,0.0005214241,0.00008093378,0.0002018567,0.0001371688],"domain_scores_gemma":[0.9993061,0.00008057367,0.0002986073,0.0001326891,0.0001072635,0.00007476947],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0000504919,0.0003394735,0.7736882,0.00009844955,0.00009970679,0.00007293119,0.01036759,0.0005668328,0.2057614,0.003670888,0.0002156628,0.005068355],"study_design_scores_gemma":[0.002096263,0.00053532,0.9599184,0.0001708363,0.0002591074,0.0004501758,0.001656504,0.0002638469,0.03116464,0.002887897,0.0004566579,0.0001403379],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9900771,0.008757994,0.00004839256,0.0002563165,0.00007906922,0.00009815228,0.00000193873,0.000002561381,0.0006784913],"genre_scores_gemma":[0.9985712,0.0002802432,0.0008530898,0.00009178438,0.00008305649,7.851709e-7,0.000001013395,0.00001287293,0.0001059533],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1862302,"threshold_uncertainty_score":0.2738072,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03486516447612481,"score_gpt":0.2928161866299132,"score_spread":0.2579510221537884,"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."}}