{"id":"W2396592996","doi":"10.4103/1817-1737.182900","title":"Adenosine triphosphate-binding cassette member A3 gene mutation in children from one family from Saudi Arabia","year":2016,"lang":"en","type":"article","venue":"Annals of Thoracic Medicine","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Medicine; Lung transplantation; Mutation; Lamellar granule; Adenosine triphosphate; Gene; Family member; Lung; Transplantation; Gene mutation; Genetics; Bioinformatics; Internal medicine; Biology; Family medicine","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":[0.0001851422,0.0009381804,0.0004793297,0.001254722,0.00125009,0.0004971391,0.0004525604,0.001105837,0.001818927],"category_scores_gemma":[0.001042257,0.0004302654,0.0004440281,0.0006577001,0.0006924018,0.0003506707,0.0006302206,0.000774521,0.0001876998],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006356146,"about_ca_system_score_gemma":0.0004877097,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01325174,"about_ca_topic_score_gemma":0.008375909,"domain_scores_codex":[0.9997482,0.00002992304,0.00004050333,0.00007841942,0.00004664867,0.00005631262],"domain_scores_gemma":[0.9995667,0.0001158881,0.000119307,0.00002456365,0.00005492698,0.0001186276],"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":[0.0002191094,0.0001390865,0.2851931,0.0000862711,0.00005748271,0.6921728,0.004848321,0.0002187943,0.01005174,0.0003813316,0.0006078313,0.006024062],"study_design_scores_gemma":[0.00003518309,0.000244941,0.2014955,0.0000524955,0.00007208425,0.7922723,0.002019474,0.0003904877,0.001931786,0.0001889071,0.00125995,0.00003694513],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989849,0.0002416963,0.0001324522,0.0001848247,0.00001535351,0.00001019443,0.00006174449,0.000006470504,0.0003623858],"genre_scores_gemma":[0.9992356,0.0002069203,0.0001642259,0.0001239415,0.00001460384,0.000003443601,0.00004531813,0.000003835593,0.0002019688],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01325174,"threshold_uncertainty_score":0.02634925,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04142066921925152,"score_gpt":0.3336871992827024,"score_spread":0.2922665300634508,"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."}}