{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002637355,0.0007691929,0.0004978217,0.001058311,0.000670401,0.0003546996,0.0006943584,0.001670625,0.001476462],"category_scores_gemma":[0.001987754,0.0002389959,0.0003936756,0.0003415218,0.0007296472,0.0003292318,0.0007592143,0.0008470814,0.0005182338],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003708797,"about_ca_system_score_gemma":0.0005651725,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002177435,"about_ca_topic_score_gemma":0.002309199,"domain_scores_codex":[0.9997627,0.00002812064,0.00002542025,0.00004570812,0.0000725884,0.00006550927],"domain_scores_gemma":[0.9994535,0.0001419395,0.0000612697,0.00001980754,0.00005786069,0.000265575],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0001165171,0.00005309774,0.03698576,0.00008748586,0.0000144693,0.8914165,0.001134222,0.0001116267,0.0586231,0.0004231101,0.0007548074,0.01027936],"study_design_scores_gemma":[0.000008803077,0.0001780043,0.04499742,0.00004132391,0.00001724445,0.9452078,0.0002492605,0.0004815264,0.006591821,0.0001040184,0.002101276,0.00002153614],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9920792,0.001714872,0.001867408,0.0006666578,0.0002210397,0.00004824551,0.000384435,0.0001540665,0.002863986],"genre_scores_gemma":[0.9964561,0.0007156735,0.001541881,0.0001337978,0.00005933892,0.00002702681,0.0001888186,0.00002006385,0.0008571235],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002177435,"threshold_uncertainty_score":0.004939258,"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."}}