{"id":"W2056569673","doi":"10.1164/rccm.201312-2225le","title":"Novel Mutation in <i>ABCA3</i> Resulting in Fatal Congenital Surfactant Deficiency in Two Siblings","year":2014,"lang":"en","type":"letter","venue":"American Journal of Respiratory and Critical Care Medicine","topic":"Neonatal Respiratory Health Research","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":false,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario","funders":"","keywords":"Medicine; Mutation; Pulmonary surfactant; Pediatrics; Genetics; Gene","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":[0.0009189983,0.002640276,0.001414867,0.001511746,0.002991678,0.001721576,0.002460028,0.01676695,0.003526348],"category_scores_gemma":[0.0103697,0.0008551544,0.002635387,0.0009867173,0.002726675,0.001691789,0.001890592,0.008120933,0.001255974],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002505133,"about_ca_system_score_gemma":0.001496898,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00517403,"about_ca_topic_score_gemma":0.003267176,"domain_scores_codex":[0.9982569,0.0002470704,0.0002443331,0.0004435575,0.0003112668,0.0004969392],"domain_scores_gemma":[0.9957098,0.001845484,0.0005930208,0.0002194029,0.0004793872,0.001152846],"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":[0.00002948863,0.00002365132,0.001636927,0.00001151324,0.000009293294,0.9945319,0.0000817097,0.00003932299,0.000416613,0.000268801,0.002434697,0.0005160672],"study_design_scores_gemma":[0.00007495317,0.0001216282,0.003477364,0.00004449642,0.00005793351,0.9897963,0.0002315916,0.0006061883,0.0008249403,0.0005800995,0.004158049,0.00002647396],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.739625,0.004677246,0.005005745,0.1825837,0.01935316,0.0004377391,0.001291623,0.000694792,0.04633106],"genre_scores_gemma":[0.9470839,0.001089297,0.002293656,0.03064119,0.01075832,0.00007887059,0.0002472795,0.0001786303,0.007628812],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01676695,"threshold_uncertainty_score":0.01817614,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05197304912350596,"score_gpt":0.4008460337393345,"score_spread":0.3488729846158286,"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."}}