{"id":"W2766056404","doi":"10.1016/j.gene.2017.10.044","title":"CRELD1 gene variants and atrioventricular septal defects in Down syndrome","year":2017,"lang":"en","type":"article","venue":"Gene","topic":"Cardiac Structural Anomalies and Repair","field":"Medicine","cited_by":29,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Department of Science and Technology, Government of Kerala; Ministry of Health, British Columbia","keywords":"Biology; Atrioventricular Septal Defect; Gene; Genetics; NFAT; Down syndrome; Calcineurin; Transcription factor; Internal medicine; Heart disease; Medicine","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009014374,0.0001105897,0.0002702073,0.0000507342,0.0001392782,0.00003758833,0.00006380192,0.00008693008,0.0000775424],"category_scores_gemma":[0.0000502978,0.00008146473,0.0001654154,0.00004438173,0.00005623921,0.00005428459,0.00011717,0.00009357589,0.00002250959],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003003574,"about_ca_system_score_gemma":0.00002641676,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002120508,"about_ca_topic_score_gemma":0.00001552977,"domain_scores_codex":[0.9992824,0.00001335586,0.0001296175,0.0002263926,0.0001322446,0.0002159889],"domain_scores_gemma":[0.9994351,0.00001126734,0.00005644079,0.0003577504,0.00002140448,0.0001180721],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003815676,0.0001525479,0.7544048,0.0003947085,0.0007839078,0.03414298,0.0004021845,0.00003981292,0.1783669,0.0002934669,0.001549649,0.0290875],"study_design_scores_gemma":[0.001400008,0.0001159841,0.9871911,0.00003787507,0.00009242708,0.004871082,0.00001261409,0.00004670664,0.004560173,0.00009492753,0.001458849,0.0001182048],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9948792,0.002989558,0.000006147277,0.000332808,0.0003152781,0.0002109182,0.00001183578,0.00002232049,0.001231874],"genre_scores_gemma":[0.9981784,0.0002970684,0.0004385331,0.0001093897,0.000178918,0.000004879534,0.00001176064,0.00001065027,0.0007704645],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2327864,"threshold_uncertainty_score":0.3322035,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007941320752578815,"score_gpt":0.2386488691663363,"score_spread":0.2307075484137575,"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."}}