{"id":"W2017461303","doi":"10.1086/512203","title":"Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation","year":2007,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Ocular Disorders and Treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":359,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto","funders":"Deutsche Forschungsgemeinschaft","keywords":"Medicine; Anophthalmia; Hypoplasia; Congenital diaphragmatic hernia; Diaphragmatic hernia; Lung; Ectodermal dysplasia; Anatomy; Broad spectrum; Dysplasia; Bronchopulmonary dysplasia; Hernia; Pathology; Radiology; Fetus; Internal medicine; Pregnancy; Gestational age; Biology; Chemistry","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":[0.0001646638,0.001117596,0.0004700177,0.001168979,0.0002728254,0.0002159908,0.0002136727,0.0004097527,0.002512084],"category_scores_gemma":[0.0003178895,0.0001863819,0.0003769306,0.0004692647,0.0004231135,0.0001802437,0.0005507074,0.0003766221,0.0005889792],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001907591,"about_ca_system_score_gemma":0.0002330854,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001218491,"about_ca_topic_score_gemma":0.002065349,"domain_scores_codex":[0.9997925,0.00003339617,0.00002147554,0.00003371882,0.00008874403,0.00003013673],"domain_scores_gemma":[0.9997798,0.00005101069,0.00006609078,0.0000138777,0.00002633112,0.00006286131],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0007048062,0.0001367021,0.03870293,0.0002510273,0.0002197692,0.01350439,0.0001971964,0.0009346694,0.8661436,0.002333513,0.002624459,0.07424698],"study_design_scores_gemma":[0.0002036449,0.0008806073,0.3008197,0.0001922025,0.0004379762,0.2110624,0.0004570313,0.003429332,0.4410917,0.002192857,0.03915128,0.00008121146],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9686313,0.008115077,0.008094163,0.0007061654,0.00007299725,0.00004255891,0.002149827,0.0004708998,0.01171692],"genre_scores_gemma":[0.9884039,0.003753445,0.003284374,0.0001686929,0.00002550296,0.00001688558,0.001182911,0.00005986619,0.003104348],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002512084,"threshold_uncertainty_score":0.008403778,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009340496848864564,"score_gpt":0.2749610442059978,"score_spread":0.2656205473571333,"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."}}