{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002953162,0.00152322,0.0003932135,0.001859387,0.001053355,0.0003090423,0.0006041025,0.00190225,0.003302184],"category_scores_gemma":[0.001789576,0.0002645845,0.0004101293,0.0008813807,0.0008901882,0.0003570431,0.0003458226,0.0008487841,0.0003338401],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00047393,"about_ca_system_score_gemma":0.0003946292,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003209687,"about_ca_topic_score_gemma":0.001972082,"domain_scores_codex":[0.9995609,0.0000850153,0.000056086,0.0001401272,0.0001068181,0.00005106406],"domain_scores_gemma":[0.9989812,0.0004885109,0.0002160486,0.00002621249,0.00008214228,0.0002058974],"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":[0.006849645,0.00143492,0.2141904,0.0003953446,0.0005068749,0.4480032,0.001787702,0.002539831,0.2888874,0.004713128,0.003273503,0.02741815],"study_design_scores_gemma":[0.0006429028,0.001666359,0.4373884,0.0002314325,0.0005840938,0.5082077,0.0006143359,0.0040125,0.03612396,0.003070368,0.007323254,0.0001347179],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9930286,0.0007417948,0.0007741276,0.00101456,0.0001092481,0.00006416978,0.0007007079,0.00002976078,0.003537065],"genre_scores_gemma":[0.9976872,0.0002537983,0.0006303012,0.0001823566,0.0001275168,0.0000148618,0.0002536028,0.00001148188,0.0008388146],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003302184,"threshold_uncertainty_score":0.01104689,"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."}}