{"id":"W2783306577","doi":"10.1038/s41598-017-18951-1","title":"The Structure of Metal Binding Domain 1 of the Copper Transporter ATP7B Reveals Mechanism of a Singular Wilson Disease Mutation","year":2018,"lang":"en","type":"article","venue":"Scientific Reports","topic":"Trace Elements in Health","field":"Nursing","cited_by":28,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Saskatchewan","funders":"National Institute of General Medical Sciences; Natural Sciences and Engineering Research Council of Canada; National Institutes of Health; University of Wisconsin-Madison","keywords":"Missense mutation; Copper; Wilson's disease; Transporter; Mutation; ATP7A; Mechanism (biology); Copper metabolism; Cytosol; Menkes disease; Chemistry; Genetics; Gene; Biology; Biochemistry; Enzyme; Disease; Medicine; Philosophy; Internal medicine","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00008188808,0.0003196062,0.0003469558,0.0002823155,0.0003704595,0.0002437887,0.0005652935,0.001026035,0.001536728],"category_scores_gemma":[0.0002940331,0.000237259,0.0002725472,0.0001845312,0.0002437752,0.0002206676,0.0002378744,0.0007827011,0.0004060359],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000545999,"about_ca_system_score_gemma":0.0002371439,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002595792,"about_ca_topic_score_gemma":0.001817759,"domain_scores_codex":[0.9999313,0.00001208696,0.000004237249,0.0000158226,0.00002536239,0.00001105535],"domain_scores_gemma":[0.9999074,0.00001788906,0.0000219547,0.000004548089,0.0000153168,0.00003299659],"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":[0.001206592,0.000234242,0.007539061,0.000402206,0.0000821871,0.01780603,0.0005669358,0.004536644,0.9419259,0.002758668,0.00685346,0.01608797],"study_design_scores_gemma":[0.0007416852,0.002747702,0.1395139,0.0004024281,0.0004954953,0.04428631,0.001463746,0.07325152,0.623825,0.007245164,0.1057245,0.0003027134],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9900327,0.003098647,0.002190948,0.000905035,0.0001787804,0.00002282497,0.0006704957,0.000157539,0.002743067],"genre_scores_gemma":[0.9928532,0.0006498147,0.002578434,0.000259382,0.00004245009,0.00001102386,0.001420222,0.00003472091,0.002150615],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002595792,"threshold_uncertainty_score":0.005161345,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01190303729941725,"score_gpt":0.2769304194954516,"score_spread":0.2650273821960343,"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."}}