{"id":"W2030275639","doi":"10.1093/hmg/10.15.1539","title":"Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein","year":2001,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Cystic Fibrosis Research Advances","field":"Medicine","cited_by":58,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"","keywords":"Missense mutation; Biology; PHEX; Recombinant DNA; Gene; Genetics; Mutation; Disease; Phenotype; Membrane protein; Cell biology; Endocrinology; Membrane; Internal medicine","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":[0.0002286584,0.0004826183,0.0003290893,0.0001462387,0.0001456916,0.000322953,0.0002968124,0.0004109453,0.001266134],"category_scores_gemma":[0.0002156052,0.0001892294,0.0002888845,0.0001485546,0.0003545296,0.0001526047,0.0003071864,0.0005115582,0.0006899455],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003243443,"about_ca_system_score_gemma":0.0001869083,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003445531,"about_ca_topic_score_gemma":0.0003704021,"domain_scores_codex":[0.9997051,0.00007121114,0.00004404538,0.0000552454,0.00008167147,0.00004270756],"domain_scores_gemma":[0.9998117,0.00008108929,0.00004143824,0.00003067236,0.00001106955,0.00002395532],"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":[0.00003848888,0.00002176134,0.00009376129,0.00001847885,0.000003605385,0.0001306361,0.00001130124,0.00004684635,0.9990363,0.0000870682,0.00002099539,0.000490854],"study_design_scores_gemma":[0.00002151553,0.0001343194,0.001525127,0.000004823899,0.00001077561,0.0008251483,0.00001935066,0.001043403,0.9939179,0.00002764556,0.002466497,0.000003419003],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9940695,0.0004177727,0.004140696,0.00007989018,0.00002314912,0.00005068945,0.000290302,0.00006889599,0.0008591474],"genre_scores_gemma":[0.9910933,0.000439614,0.004647888,0.00004178852,0.0000106071,0.00005259411,0.0008706154,0.00006234243,0.002781199],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001266134,"threshold_uncertainty_score":0.004235625,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02054038024737188,"score_gpt":0.294938326232362,"score_spread":0.2743979459849902,"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."}}