{"id":"W2085657391","doi":"10.1159/000341501","title":"MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features","year":2012,"lang":"en","type":"article","venue":"Molecular Syndromology","topic":"Ocular Disorders and Treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Medicine; Pediatrics; Genetics; Biology","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002889461,0.0002873671,0.0004170901,0.00007983173,0.00004863992,0.00001211837,0.0003293815,0.0003436315,0.00002282429],"category_scores_gemma":[0.0001404733,0.0002139727,0.0002350646,0.0002759783,0.0002608684,0.000007916845,0.0001760392,0.000193586,0.00000734196],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002190779,"about_ca_system_score_gemma":0.000116616,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001432086,"about_ca_topic_score_gemma":0.00009390834,"domain_scores_codex":[0.9977844,0.0004925887,0.000553545,0.0004468406,0.0002107496,0.0005118825],"domain_scores_gemma":[0.9986107,0.00002204825,0.0003031341,0.0008532043,0.00008157201,0.0001293694],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001413731,0.001411869,0.9713343,0.0000762884,0.0008136124,0.002137552,0.0001264761,0.0003813799,0.01812841,0.0003319118,0.0002262367,0.004890574],"study_design_scores_gemma":[0.003217666,0.001467994,0.9340577,0.0001015449,0.0003710212,0.01342812,0.00005377054,0.00002094716,0.04419139,0.0002615559,0.002312559,0.0005157861],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9916841,0.005165135,0.001644682,0.0001820907,0.0001792227,0.0007380015,0.000009639009,0.00001082176,0.0003863521],"genre_scores_gemma":[0.9974501,0.0001583944,0.00172569,0.0003152471,0.00001600736,0.0001544119,0.00006903703,0.00004793819,0.00006319136],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03727667,"threshold_uncertainty_score":0.8725552,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009376201535342767,"score_gpt":0.2700532214239227,"score_spread":0.2606770198885799,"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."}}