{"id":"W4405744892","doi":"10.1016/j.jccase.2024.11.010","title":"A novel SMAD9 nonsense variant in an 11-year-old Japanese patient with diffuse pulmonary arteriovenous malformation: A case report","year":2024,"lang":"en","type":"article","venue":"Journal of Cardiology Cases","topic":"Vascular Anomalies and Treatments","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Fujita Health University; Hospital for Sick Children","keywords":"Medicine; Nonsense; Internal medicine; Cardiology; Arteriovenous malformation; Radiology; Genetics; Gene; Biology","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002748118,0.001723629,0.001277746,0.001754247,0.002321395,0.001353468,0.001279108,0.003558751,0.002056693],"category_scores_gemma":[0.001857085,0.001282893,0.001362419,0.001154542,0.001589927,0.001512116,0.001236099,0.002256156,0.0005347818],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008801939,"about_ca_system_score_gemma":0.0008732333,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003622598,"about_ca_topic_score_gemma":0.004827089,"domain_scores_codex":[0.9995319,0.00003797276,0.00005522718,0.000174699,0.00005965688,0.0001405962],"domain_scores_gemma":[0.9987819,0.0003746841,0.0002210335,0.00008014269,0.00009206737,0.0004502796],"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":[0.00001935807,0.00001461335,0.004496484,0.000009659885,0.000006502575,0.994017,0.00006543013,0.00003017136,0.0008420618,0.00005410683,0.00007422652,0.0003704362],"study_design_scores_gemma":[0.000008917904,0.00003204018,0.004501813,0.000005558077,0.00002683752,0.9945375,0.0001373795,0.0001734099,0.0002863392,0.00008734968,0.0001941898,0.000008629897],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9897266,0.00241254,0.00228889,0.001328901,0.0002266695,0.00006724977,0.0001828635,0.00009272179,0.003673605],"genre_scores_gemma":[0.9961721,0.0008556046,0.001077954,0.0003860243,0.0003608548,0.00001370398,0.0001011371,0.0000254778,0.001007012],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003622598,"threshold_uncertainty_score":0.007202983,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01797718359862852,"score_gpt":0.2589729134302446,"score_spread":0.2409957298316161,"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."}}