{"id":"W1987179081","doi":"10.1002/humu.10124","title":"Mutation analysis ofPEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype","year":2002,"lang":"en","type":"article","venue":"Human Mutation","topic":"Peroxisome Proliferator-Activated Receptors","field":"Biochemistry, Genetics and Molecular Biology","cited_by":133,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institutes of Health; Johns Hopkins University","keywords":"Biology; Genetics; Allele; Genotype; Peroxisomal disorder; Mutation; Phenotype; Gene; Peroxisome","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":[0.0002264793,0.001002192,0.0004324824,0.00187847,0.0005485268,0.0003649999,0.0003058661,0.0007518898,0.001506862],"category_scores_gemma":[0.001384967,0.000414296,0.0003700917,0.0006497069,0.0005756184,0.0001686643,0.0004477804,0.0003176572,0.0003354523],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002523007,"about_ca_system_score_gemma":0.0001350852,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003003475,"about_ca_topic_score_gemma":0.001636129,"domain_scores_codex":[0.9995127,0.00005559704,0.00005931433,0.0001517713,0.0001495998,0.00007091025],"domain_scores_gemma":[0.9995844,0.0001555576,0.00008160345,0.0000283081,0.00005614635,0.0000939783],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001016043,0.0003587911,0.6952464,0.00008458254,0.0001628842,0.09416234,0.00238526,0.0005680507,0.1909438,0.0001705121,0.0002860092,0.01461526],"study_design_scores_gemma":[0.00006621334,0.0007617908,0.8801509,0.0000234659,0.0001527425,0.0982113,0.0005051274,0.001173393,0.01768132,0.0001396481,0.001101441,0.00003272757],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995727,0.0000732945,0.000147743,0.00001124931,0.000001960275,0.000005580072,0.00007091255,0.000006882653,0.0001097131],"genre_scores_gemma":[0.9991962,0.00009496155,0.0002331246,0.00001578342,0.000004804839,0.00000763171,0.0002116957,0.000008570095,0.0002272726],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003003475,"threshold_uncertainty_score":0.005971968,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01244301597138706,"score_gpt":0.2197353623438673,"score_spread":0.2072923463724803,"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."}}