{"id":"W2993397733","doi":"","title":"Manitoba-oculo-tricho-anal (MOTA) Syndrome is caused by mutations in FREM1","year":2011,"lang":"en","type":"article","venue":"Medizinische Genetik","topic":"Ocular Disorders and Treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"","keywords":"Medicine; Gynecology; Internal medicine","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":[0.0001640928,0.001816846,0.0005103914,0.001385086,0.001295952,0.0006636376,0.0005742977,0.001499827,0.003063784],"category_scores_gemma":[0.0005960884,0.0005264159,0.0004977588,0.001033386,0.0009289573,0.0002932115,0.000907107,0.0005842873,0.000830314],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006810374,"about_ca_system_score_gemma":0.0009000199,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01247034,"about_ca_topic_score_gemma":0.02236878,"domain_scores_codex":[0.9998759,0.00001113441,0.00001371537,0.00002980729,0.0000300708,0.00003935185],"domain_scores_gemma":[0.9997438,0.000057583,0.0001051406,0.000012317,0.0000206665,0.00006066007],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001070451,0.0001534246,0.06286448,0.0004415794,0.0002772547,0.5689056,0.001568439,0.0004581499,0.3306748,0.002968417,0.002754373,0.02786303],"study_design_scores_gemma":[0.0003786607,0.000406308,0.2559987,0.000265416,0.0008367382,0.6455775,0.00199598,0.001762089,0.06307221,0.002459889,0.02705051,0.0001960024],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9864799,0.002628574,0.001322011,0.0005780546,0.0001272831,0.00006574644,0.0006577943,0.000266591,0.007874104],"genre_scores_gemma":[0.9940042,0.00107171,0.001626231,0.0002639439,0.00003992501,0.00003389057,0.0002250864,0.00004588911,0.002689136],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01247034,"threshold_uncertainty_score":0.02479547,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0170686331282637,"score_gpt":0.2345440729040976,"score_spread":0.2174754397758339,"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."}}