{"id":"W2414532145","doi":"10.1172/jci85830","title":"Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity","year":2016,"lang":"en","type":"article","venue":"Journal of Clinical Investigation","topic":"Glaucoma and retinal disorders","field":"Medicine","cited_by":289,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Eye Institute; Japan Society for the Promotion of Science; National Health and Medical Research Council; Medical Research Council; Robert H. Lurie Comprehensive Cancer Center; National Heart, Lung, and Blood Institute; Northwestern University; University of Wisconsin-Madison; Mallinckrodt Pharmaceuticals; Research to Prevent Blindness; National Institutes of Health; National Cancer Institute; National University of Singapore; March of Dimes Foundation","keywords":"Trabecular meshwork; Biology; Glaucoma; Phenotype; Haploinsufficiency; Schlemm's canal; Loss function; Genetics; Gene; Cell biology; Neuroscience","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001028792,0.0001362155,0.0004642088,0.00009637557,0.00007231466,0.00002166707,0.000103364,0.0001662469,0.0001907618],"category_scores_gemma":[0.001778583,0.00007324835,0.0001935957,0.0001965782,0.0005171256,0.0003232075,0.00002018642,0.0003416321,0.00004260301],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005609516,"about_ca_system_score_gemma":0.0006910561,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006998017,"about_ca_topic_score_gemma":0.000003670096,"domain_scores_codex":[0.9978775,0.0002303061,0.001073649,0.0001728409,0.0004641378,0.0001815404],"domain_scores_gemma":[0.9971328,0.0009157349,0.0008320217,0.0001741418,0.0005401369,0.0004051301],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001330779,0.000425246,0.9334912,0.00006896074,0.0002807148,0.00005847241,0.000121231,0.00000126652,0.04608515,0.0008113552,0.009988965,0.007336642],"study_design_scores_gemma":[0.005731541,0.002414229,0.9750006,0.0007165744,0.0003436245,0.0002874019,0.0001528164,0.00002986371,0.002502465,0.00526255,0.007386211,0.0001721728],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9830561,0.0001118724,0.005252412,0.009209526,0.0003517272,0.0001937987,0.00000648078,0.0000236162,0.001794423],"genre_scores_gemma":[0.9672368,0.00007179574,0.02993418,0.001162252,0.0005297614,0.000004704857,0.00001616538,0.00002400711,0.0010203],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04358268,"threshold_uncertainty_score":0.2986981,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03709722069796974,"score_gpt":0.3168550079633498,"score_spread":0.2797577872653801,"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."}}