{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001276602,0.0005529997,0.0002896818,0.0006228971,0.0002500032,0.0002102761,0.0001645922,0.0003003493,0.001178716],"category_scores_gemma":[0.0005893363,0.0001326748,0.0001395565,0.0004130514,0.0006160729,0.0001650544,0.0003145792,0.0002692105,0.0001856646],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001778019,"about_ca_system_score_gemma":0.0001698501,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006814536,"about_ca_topic_score_gemma":0.000898164,"domain_scores_codex":[0.999836,0.00002141226,0.00002207363,0.00005133047,0.00004552692,0.00002366647],"domain_scores_gemma":[0.9997016,0.00008751073,0.0001428514,0.00001255332,0.00001389514,0.00004154372],"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":[0.00130129,0.0001352008,0.3070811,0.0002635879,0.00021103,0.1206467,0.0007710501,0.0007751497,0.5336143,0.001872401,0.001024884,0.03230327],"study_design_scores_gemma":[0.0001200014,0.0004932251,0.6254529,0.00004597721,0.0002399945,0.3159271,0.0003760412,0.001691358,0.05157797,0.0007386475,0.003303101,0.00003366421],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.99815,0.0005650286,0.0004897455,0.00004833591,0.000006037833,0.00001106458,0.0001438696,0.0000290548,0.0005569133],"genre_scores_gemma":[0.9992979,0.0001654755,0.0003072417,0.00001351094,0.000008910304,0.000002193386,0.00006517852,0.000005633422,0.000134059],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001178716,"threshold_uncertainty_score":0.003943205,"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."}}