{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001228764,0.0009365969,0.000497659,0.0009042537,0.0004867467,0.0003109391,0.0004561124,0.0005619252,0.005067631],"category_scores_gemma":[0.0009230627,0.0001705493,0.0002694011,0.0006118903,0.0005216318,0.0002442985,0.00048956,0.0004534301,0.0007620194],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004143858,"about_ca_system_score_gemma":0.0005068035,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002700841,"about_ca_topic_score_gemma":0.002861127,"domain_scores_codex":[0.9997146,0.00001963166,0.00002253461,0.00009039215,0.000103962,0.00004897827],"domain_scores_gemma":[0.9995976,0.0000549005,0.0001802581,0.00001912718,0.00005356213,0.0000945706],"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":[0.001006351,0.0002324323,0.2613948,0.001665405,0.0002863715,0.475552,0.0007735731,0.001435902,0.1309807,0.00284258,0.01066654,0.1131635],"study_design_scores_gemma":[0.00004364962,0.0001879219,0.1210781,0.0001707783,0.00006935707,0.8662239,0.0001201294,0.0004000869,0.006038719,0.000418633,0.005221405,0.00002720474],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9542595,0.007983427,0.003714159,0.0009679929,0.00007030217,0.0002017885,0.00209262,0.0005535426,0.03015661],"genre_scores_gemma":[0.9919667,0.001202638,0.001460249,0.0001602156,0.00003986103,0.00002907991,0.0006633796,0.00003003502,0.00444778],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005067631,"threshold_uncertainty_score":0.01695287,"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."}}