{"id":"W2089966868","doi":"10.1002/ajmg.10665","title":"A second patient with MCA/MR syndrome with multiple circumferential skin creases","year":2002,"lang":"en","type":"article","venue":"American Journal of Medical Genetics","topic":"Genetic and rare skin diseases.","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"Glenrose Rehabilitation Hospital","keywords":"Microphthalmia; Microcephaly; Medicine; Anatomy; Congenital disease; Surgery; Biology; Pediatrics; Genetics","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0001141468,0.0002301166,0.000347134,0.00007202181,0.00006194291,0.000027316,0.0004008556,0.000101637,0.001012033],"category_scores_gemma":[0.00009912241,0.0001550444,0.0001272166,0.0001688533,0.0006113325,0.000003566794,0.00008361018,0.0002231309,0.000008053108],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001367845,"about_ca_system_score_gemma":0.0002352553,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001200894,"about_ca_topic_score_gemma":0.00004397232,"domain_scores_codex":[0.9978714,0.0001113172,0.0004135733,0.0002663847,0.0009959342,0.0003413918],"domain_scores_gemma":[0.9983794,0.00003665483,0.0003867958,0.0003054669,0.0002045351,0.0006871088],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.003313202,0.005511268,0.1531305,0.0002133133,0.003801224,0.01065459,0.001730713,0.001914266,0.01415075,0.00001816573,0.04251701,0.763045],"study_design_scores_gemma":[0.0284743,0.1359841,0.2368268,0.001558123,0.001883927,0.1127919,0.008985472,0.002633539,0.0728463,0.00006793111,0.3933713,0.004576269],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9940285,0.002472455,0.002712617,0.0002757591,0.0001070492,0.0001069387,0.00002331767,0.000005080643,0.0002682964],"genre_scores_gemma":[0.9958063,0.0008141062,0.002371731,0.0006033013,0.0002655389,0.000005561399,0.00001308917,0.00003786456,0.00008251888],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7584687,"threshold_uncertainty_score":0.9999012,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004495985518267521,"score_gpt":0.2032196546920435,"score_spread":0.198723669173776,"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."}}