{"id":"W2811096374","doi":"10.1007/s00439-018-1896-x","title":"Expanding the phenotype of the X-linked BCOR microphthalmia syndromes","year":2018,"lang":"en","type":"article","venue":"Human Genetics","topic":"Ocular Disorders and Treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":53,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hotel Dieu Hospital","funders":"Ministerio de Economía y Competitividad; National Institute for Health and Care Research; Fondation Maladies Rares; Fundación Mutua Madrileña; Wellcome Trust; Baillie Gifford","keywords":"Microphthalmia; Biology; Genetics; Cataracts; X-linked recessive inheritance; Phenotype; Missense mutation; X chromosome; Gene","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":[0.00005453833,0.0001092642,0.00008836126,0.00001194367,0.0002533597,0.00001591333,0.0003075808,0.00007038726,0.00005451718],"category_scores_gemma":[0.00001116484,0.00006400757,0.00009473167,0.00006372175,0.000262187,8.056373e-7,0.0001610553,0.00004310198,0.00001617604],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005750722,"about_ca_system_score_gemma":0.00002676429,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001419797,"about_ca_topic_score_gemma":0.00004949652,"domain_scores_codex":[0.9993937,0.00004266239,0.0001347528,0.0001735427,0.0001001845,0.0001551419],"domain_scores_gemma":[0.9993047,0.000004275069,0.00008083606,0.0005236228,0.00006292317,0.00002367034],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00001443636,0.00008571424,0.02713326,0.0000125601,0.0001294691,0.000001099013,0.0002395508,0.000007577038,0.9699367,0.0000754487,0.0008592582,0.00150495],"study_design_scores_gemma":[0.0008718047,0.0006622312,0.1868524,0.00002753127,0.0001200917,0.00002381184,0.0002121758,0.0000139584,0.7947064,0.0008892163,0.01538578,0.00023456],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9959564,0.001738718,0.00003727521,0.00004724147,0.0001663393,0.0001675339,0.000008051976,0.000003741307,0.001874747],"genre_scores_gemma":[0.9983291,0.00008254132,0.0001810717,0.00008605678,0.000152498,0.000006581542,0.00001366879,0.00001910161,0.001129382],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1752302,"threshold_uncertainty_score":0.2610153,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02021563569767882,"score_gpt":0.2816529511849401,"score_spread":0.2614373154872613,"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."}}