{"id":"W2168517818","doi":"10.1194/jlr.p000331","title":"The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes","year":2009,"lang":"en","type":"article","venue":"Journal of Lipid Research","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":94,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; St. Paul's Hospital","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; Canadian Institutes of Health Research; National Institutes of Health; National Niemann-Pick Disease Foundation","keywords":"Phenotype; Niemann–Pick disease; Niemann–Pick disease, type C; Genetics; Biology; Gene; Biochemistry; Cholesterol","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":[],"consensus_categories":[],"category_scores_codex":[0.00249185,0.00009666514,0.00021592,0.0003604833,0.0002602623,0.00005657267,0.0002348771,0.00007160021,0.0001153031],"category_scores_gemma":[0.006793882,0.00006294259,0.00007385791,0.0006709605,0.0003799891,0.0002046131,0.00008168443,0.0007844322,0.00001929201],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001491211,"about_ca_system_score_gemma":0.001008421,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007234094,"about_ca_topic_score_gemma":8.933595e-7,"domain_scores_codex":[0.9965404,0.0002643958,0.0004855241,0.0001637854,0.002244781,0.0003011588],"domain_scores_gemma":[0.9957765,0.0007096686,0.0001762349,0.0001788724,0.002839102,0.0003195688],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"observational","study_design_scores_codex":[0.02278667,0.003870538,0.120008,0.001131192,0.0006621971,0.0002877715,0.001428448,0.000222969,0.3285007,0.01275643,0.4651732,0.04317183],"study_design_scores_gemma":[0.01177806,0.007126106,0.8376758,0.002019333,0.0002477808,0.0007563761,0.002355979,0.01325628,0.02644932,0.01531626,0.08238253,0.000636191],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9674836,0.007837686,0.0001396523,0.02178643,0.0002124627,0.0006690548,0.00003222898,0.00001148856,0.001827355],"genre_scores_gemma":[0.9962805,0.001109723,0.0005927788,0.00007428598,0.0009043445,0.000004521297,0.00004155301,0.00001316719,0.0009791612],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7176678,"threshold_uncertainty_score":0.8133401,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06117634071811931,"score_gpt":0.3987737744702321,"score_spread":0.3375974337521128,"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."}}