{"id":"W1967054787","doi":"10.1186/s12881-014-0109-2","title":"CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia","year":2014,"lang":"en","type":"article","venue":"BMC Medical Genetics","topic":"Glaucoma and retinal disorders","field":"Medicine","cited_by":41,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill University Health Centre","funders":"King Abdulaziz University","keywords":"Exon; CYP1B1; Allele; Compound heterozygosity; Genetics; Biology; Allele frequency; Genotype; Gene; Medicine; Internal medicine","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":[0.0001920024,0.0006701771,0.0003656045,0.001088695,0.0007382206,0.0003811945,0.0002949135,0.0006300011,0.003019604],"category_scores_gemma":[0.0009424827,0.000246289,0.000303887,0.0007319636,0.0003103997,0.0002101733,0.0004203217,0.0003084727,0.0003192913],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003636222,"about_ca_system_score_gemma":0.0002934442,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004478609,"about_ca_topic_score_gemma":0.003376929,"domain_scores_codex":[0.9997755,0.00002688596,0.000033563,0.00005921614,0.00004831998,0.00005655107],"domain_scores_gemma":[0.9995529,0.00008051501,0.0001907742,0.00002090163,0.00005596106,0.00009884156],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003446482,0.00006544476,0.9424174,0.00008882977,0.00004677367,0.04487993,0.0007735009,0.00007505312,0.004320694,0.00007866632,0.0005243266,0.006384771],"study_design_scores_gemma":[0.00007346588,0.0002905352,0.8022085,0.00007027722,0.00009117238,0.1940134,0.0008608788,0.0003119786,0.0008407897,0.0001010441,0.00112133,0.00001658273],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989932,0.0004133865,0.00004067256,0.00005913467,0.000008363261,0.000008420442,0.00009385137,0.000003891748,0.0003790105],"genre_scores_gemma":[0.9994924,0.0001879623,0.00007019789,0.00004467287,0.00001435378,0.000003119815,0.0001048343,0.000001340757,0.00008116691],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004478609,"threshold_uncertainty_score":0.01010156,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00722332272159736,"score_gpt":0.2245337664552085,"score_spread":0.2173104437336111,"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."}}