{"id":"W2060359715","doi":"10.1073/pnas.1014959108","title":"Cellular copper levels determine the phenotype of the Arg <sup>875</sup> variant of ATP7B/Wilson disease protein","year":2011,"lang":"en","type":"article","venue":"Proceedings of the National Academy of Sciences","topic":"Trace Elements in Health","field":"Nursing","cited_by":50,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; University of Saskatchewan","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Institute of General Medical Sciences; National Institutes of Health","keywords":"Phenotype; Endoplasmic reticulum; Mutant; Biology; Chaperone (clinical); Wilson's disease; Golgi apparatus; Copper; ER retention; Genotype; Genetics; Chemistry; Gene; Disease; Internal medicine; Medicine; Pathology","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":[0.00009217249,0.0003908391,0.0002429045,0.0002567302,0.0001429177,0.0003026249,0.0001629745,0.000364602,0.001691594],"category_scores_gemma":[0.0002024876,0.0001817001,0.0001326009,0.0002243569,0.0003084798,0.0001177637,0.0002354672,0.0002696634,0.0007569019],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001895827,"about_ca_system_score_gemma":0.0000816013,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006251214,"about_ca_topic_score_gemma":0.000619357,"domain_scores_codex":[0.999843,0.00002512189,0.00002629071,0.00004698157,0.00003665959,0.00002181125],"domain_scores_gemma":[0.9998226,0.00002326938,0.00006270246,0.00001353298,0.00001815336,0.00005987517],"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":[0.0003154052,0.00002135117,0.002706185,0.0000213289,0.00001115388,0.0004829369,0.00002882997,0.0000345621,0.9951006,0.00005373839,0.00006050532,0.001163451],"study_design_scores_gemma":[0.00007195441,0.0007974078,0.2042124,0.00002023526,0.00007477595,0.01061786,0.0002698464,0.001656876,0.7768651,0.0004877972,0.004896968,0.00002889564],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977387,0.0004456868,0.0006995113,0.00005074224,0.00001065377,0.000007382639,0.0003049372,0.00004508802,0.0006972362],"genre_scores_gemma":[0.9982529,0.0001714635,0.0004603132,0.00003141033,0.000004757649,0.000008081865,0.0003317069,0.00002910161,0.0007101424],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001691594,"threshold_uncertainty_score":0.005658925,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08578223186578253,"score_gpt":0.3099652876635834,"score_spread":0.2241830557978009,"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."}}