{"id":"W1965619867","doi":"10.1038/ng1221","title":"Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification","year":2003,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Alkaline Phosphatase Research Studies","field":"Medicine","cited_by":603,"is_retracted":false,"has_abstract":false,"ca_institutions":"Children's & Women's Health Centre of British Columbia","funders":"Deutsche Forschungsgemeinschaft; Arthritis National Research Foundation; U.S. Department of Veterans Affairs; National Institute for Health and Care Research; Foundation for the National Institutes of Health","keywords":"Calcification; Biology; Phosphodiesterase; Mutation; Pyrophosphate; Pyrophosphatase; Internal elastic lamina; Cell; Internal medicine; Endocrinology; Enzyme; Genetics; Biochemistry; Anatomy; Gene; Medicine; Smooth muscle","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":[0.00047495,0.002182346,0.0009672371,0.002847769,0.0008182882,0.0006333747,0.001293529,0.003143561,0.004547096],"category_scores_gemma":[0.005220314,0.0006403268,0.000532699,0.001936047,0.001693266,0.0006778322,0.0008896302,0.00127473,0.0007072517],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003244909,"about_ca_system_score_gemma":0.0003113962,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001229167,"about_ca_topic_score_gemma":0.0008567007,"domain_scores_codex":[0.9992502,0.0001213339,0.0001176212,0.000156559,0.0002233935,0.0001309417],"domain_scores_gemma":[0.9967948,0.001627602,0.0008982036,0.0001676934,0.0001780643,0.0003336086],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001299547,0.0002261521,0.0575821,0.0002482595,0.0001685832,0.8621319,0.001368165,0.0006810998,0.06441895,0.001234911,0.001205656,0.009434642],"study_design_scores_gemma":[0.0001176418,0.00027765,0.1189983,0.00006847165,0.0002633168,0.8493817,0.0004130678,0.00138846,0.02447512,0.0007457971,0.003815885,0.00005446908],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.992203,0.0009032662,0.001145504,0.0004661642,0.00009985096,0.00002896328,0.000285559,0.0001015531,0.004766231],"genre_scores_gemma":[0.9974865,0.0002728111,0.000789959,0.00008324451,0.0001424906,0.00001307302,0.0001447389,0.00003416319,0.001032919],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004547096,"threshold_uncertainty_score":0.01521152,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01660030137103867,"score_gpt":0.3176670123914281,"score_spread":0.3010667110203894,"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."}}