{"id":"W1968760333","doi":"10.1016/s0008-4182(04)80125-x","title":"Phenotypic variations in patients with a 1630 A&gt;T point mutation in the PAX6 gene","year":2004,"lang":"en","type":"article","venue":"Canadian Journal of Ophthalmology","topic":"Developmental Biology and Gene Regulation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":false,"ca_institutions":"Dalhousie University","funders":"","keywords":"PAX6; Point mutation; Aniridia; Mutation; Exon; Nystagmus; Glaucoma; Gene mutation; Medicine; Ophthalmology; Phenotype; Gene; Genetics; Biology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":true,"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":[0.0002402099,0.00007381217,0.00009392623,0.0001463487,0.00004795476,0.000007595988,0.0001301808,0.0001089455,0.00002867263],"category_scores_gemma":[0.00005195929,0.00005455506,0.00002393291,0.0001422696,0.00006541886,0.000007542264,0.000005895819,0.00009640555,0.000002940078],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006750216,"about_ca_system_score_gemma":0.0005721286,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004436014,"about_ca_topic_score_gemma":0.002034188,"domain_scores_codex":[0.9993778,0.00008711419,0.0002131828,0.0001016432,0.00005205915,0.0001681696],"domain_scores_gemma":[0.9996562,0.000008862688,0.0001033908,0.00009081689,0.0000744228,0.00006632499],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002079092,0.0001134116,0.9915379,0.000004458467,0.0000570101,0.001325133,0.0008040933,0.002965711,0.001743229,0.0004403513,0.00005823165,0.0007425963],"study_design_scores_gemma":[0.001267989,0.0005112832,0.9914641,0.000009746219,0.000006712626,0.004303494,0.0000608156,0.000001315523,0.0009596467,0.001240741,0.0001002512,0.00007385268],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983479,0.0001517287,0.0002012697,0.0003954134,0.0001166233,0.0001137938,0.00000564554,3.151125e-7,0.0006672793],"genre_scores_gemma":[0.9989865,0.00000129279,0.0007554225,0.0001012921,0.00003858281,0.000004527286,0.00008311946,0.00000541583,0.00002377608],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002978361,"threshold_uncertainty_score":0.2224691,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005921161205617666,"score_gpt":0.2099167108106785,"score_spread":0.2039955496050608,"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."}}