{"id":"W1968893705","doi":"10.4021//jmc.v3i3.575","title":"Extremely Rare Syndrome: Pseudotrisomy 13","year":2012,"lang":"en","type":"article","venue":"Journal of Medical Cases","topic":"Hedgehog Signaling Pathway Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Medicine; Polydactyly; Microcephaly; Karyotype; Pediatrics; Anatomy; Chromosome; Genetics","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"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":[0.00008882738,0.0007278635,0.0003711764,0.0007745823,0.0003461742,0.000389932,0.0002914756,0.0006629889,0.003936046],"category_scores_gemma":[0.001288721,0.0002181923,0.000218924,0.0004536216,0.0005106769,0.0003274741,0.0006762149,0.0004023755,0.0005360893],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001758529,"about_ca_system_score_gemma":0.0002136352,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002060074,"about_ca_topic_score_gemma":0.000206506,"domain_scores_codex":[0.9997985,0.00002825574,0.00002328242,0.0000500394,0.00005959204,0.00004043007],"domain_scores_gemma":[0.9994714,0.0001690341,0.0001481069,0.00004204471,0.00003018935,0.0001393581],"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":[0.0002379769,0.0000257316,0.0429915,0.0001080641,0.00004198972,0.8812432,0.0003408248,0.0002093029,0.06473105,0.001216474,0.0007117883,0.008142036],"study_design_scores_gemma":[0.00001912812,0.0001018845,0.02409195,0.00001224027,0.000021833,0.9647092,0.00011501,0.0002322253,0.008489987,0.0004638725,0.001731633,0.00001091995],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.992774,0.0009913731,0.002336074,0.0002066371,0.00006013747,0.00002092557,0.0003123936,0.0001395767,0.003158876],"genre_scores_gemma":[0.9979218,0.0004265771,0.0006365224,0.00005409001,0.00003967225,0.00001326337,0.0001596266,0.00001577764,0.000732804],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003936046,"threshold_uncertainty_score":0.01316738,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03701942538821636,"score_gpt":0.3034638335381685,"score_spread":0.2664444081499522,"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."}}