{"id":"W349794471","doi":"","title":"Rhizomelic Chondrodysplasia Punctata Type 1","year":2012,"lang":"en","type":"article","venue":"Europe PMC (PubMed Central)","topic":"Peroxisome Proliferator-Activated Receptors","field":"Biochemistry, Genetics and Molecular Biology","cited_by":29,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Children's Hospital","funders":"","keywords":"Medicine; Chondrodysplasia punctata; Pediatrics; Short stature; Genetic counseling; Cataracts; Proband; Genu Valgum; Surgery; Pathology; Genetics","routes":{"ca_aff":true,"ca_fund":false,"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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002551778,0.0002951449,0.0001934143,0.00006066168,0.00009110416,0.00004583005,0.0003757353,0.0001701029,0.0002319537],"category_scores_gemma":[0.0003855386,0.0002633203,0.00008127645,0.0003522286,0.00008066991,0.00002218727,0.0001910712,0.0002283393,0.0004405438],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005079039,"about_ca_system_score_gemma":0.0001001222,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000004198753,"about_ca_topic_score_gemma":0.000001720735,"domain_scores_codex":[0.9975492,0.0001447857,0.0002492422,0.0004341509,0.0002213032,0.001401303],"domain_scores_gemma":[0.9986003,0.000009908788,0.00009360995,0.0005783988,0.00009702367,0.0006207361],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0001902092,0.0002294684,0.1312391,0.00002272513,0.0001445425,0.000006779521,0.0004484003,0.000006504094,0.836322,0.00007992447,0.02664798,0.004662355],"study_design_scores_gemma":[0.0003129312,0.00005976564,0.02733495,0.00000505645,0.00001781471,0.00003258267,0.00001789635,0.000001299035,0.4905978,0.000001802653,0.481371,0.0002471656],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9891158,0.002408419,0.00005603384,0.0001583362,0.002304141,0.0003201943,0.00002134563,0.00007237957,0.005543324],"genre_scores_gemma":[0.993548,0.0007988018,0.0002803261,0.0003935828,0.001482047,0.0000428511,0.0001748433,0.0000902758,0.003189238],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.454723,"threshold_uncertainty_score":0.9999819,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01377277338590344,"score_gpt":0.2248512648530617,"score_spread":0.2110784914671583,"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."}}