{"id":"W2111572489","doi":"10.1002/ajmg.a.31732","title":"Absence of <i>PITX2</i>, <i>BARX1</i>, and <i>FOXC1</i> mutations in De Hauwere syndrome (Axenfeld–Rieger anomaly, hydrocephaly, hearing loss): A 25‐year follow up","year":2007,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Bone Metabolism and Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Health Services; South Health Campus; Alberta Children's Hospital; University of Alberta; University of Calgary","funders":"","keywords":"PITX2; Anomaly (physics); Hearing loss; Medicine; Pediatrics; Audiology; Biology; Genetics; Physics; Gene; Transcription factor","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":[0.000211167,0.0004235017,0.0003309008,0.00124033,0.0008381762,0.000592479,0.0003519257,0.0007597748,0.0009691959],"category_scores_gemma":[0.001081914,0.000298082,0.0007133404,0.0004742034,0.0005806911,0.0005346817,0.0003595042,0.0007774449,0.0003597363],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002953404,"about_ca_system_score_gemma":0.0002604766,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005172631,"about_ca_topic_score_gemma":0.00285584,"domain_scores_codex":[0.9997308,0.00001778035,0.00003437223,0.00007665398,0.00006061215,0.00007982299],"domain_scores_gemma":[0.9993953,0.0001444381,0.0001549728,0.00004956238,0.00008528687,0.0001704853],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.000482288,0.0005142195,0.6642572,0.00004552516,0.0002727527,0.2543207,0.002116429,0.0006379547,0.0436054,0.0003067353,0.00104322,0.03239766],"study_design_scores_gemma":[0.00004890628,0.000922047,0.6618763,0.00002459749,0.0003204293,0.3240684,0.0005473816,0.0006776587,0.007268282,0.0002615777,0.003909464,0.00007499066],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981701,0.0003667801,0.0002076062,0.00008977298,0.00001225675,0.000007730739,0.0001017139,0.00001650979,0.001027338],"genre_scores_gemma":[0.9988748,0.0001367742,0.0001168654,0.00005496995,0.000009966931,0.000004039116,0.0001331757,0.000004663244,0.0006646934],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005172631,"threshold_uncertainty_score":0.01028508,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00817167819279327,"score_gpt":0.2668383498113472,"score_spread":0.2586666716185539,"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."}}