{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003263276,0.0001435217,0.0002495864,0.0001449152,0.0001517736,0.00002195732,0.0001346277,0.00003884142,0.000006667644],"category_scores_gemma":[0.00002163109,0.0001222887,0.0000942223,0.0001555021,0.0002569978,0.0000146258,0.00006141686,0.000126869,8.108619e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003600995,"about_ca_system_score_gemma":0.00005409792,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007273816,"about_ca_topic_score_gemma":0.0004301107,"domain_scores_codex":[0.9988967,0.0001000442,0.0004824387,0.0001193595,0.0001961012,0.0002053765],"domain_scores_gemma":[0.9991893,0.00003241448,0.0004580869,0.0001811104,0.00006317818,0.00007592],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002654909,0.0003756718,0.5203363,0.00004642825,0.0007469631,0.00005939193,0.003024628,0.0006791952,0.47201,0.00004199869,0.0001075242,0.002306353],"study_design_scores_gemma":[0.002858211,0.003487159,0.8120334,0.00009391234,0.0004613264,0.001471508,0.007280255,0.0003524676,0.1707402,0.0006191332,0.0001756588,0.0004268358],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9959952,0.003368901,0.0002196649,0.0000845722,0.00004295543,0.0001930766,0.00001913351,0.000002097087,0.00007443409],"genre_scores_gemma":[0.9987347,0.0004626678,0.0006353849,0.0000477193,0.00004476737,0.000002118394,0.00004175285,0.00001835845,0.00001252761],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3012699,"threshold_uncertainty_score":0.498679,"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."}}