{"id":"W2085488008","doi":"10.1007/s00439-013-1327-y","title":"A novel rearrangement of occludin causes brain calcification and renal dysfunction","year":2013,"lang":"en","type":"article","venue":"Human Genetics","topic":"Digestive system and related health","field":"Biochemistry, Genetics and Molecular Biology","cited_by":30,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal; Capital District Health Authority; McGill University; Princess Margaret Cancer Centre; Izaak Walton Killam Health Centre; Dalhousie University","funders":"Canadian Institutes of Health Research; University of Chicago","keywords":"Biology; Occludin; Calcification; Human genetics; Molecular medicine; Internal medicine; Evolutionary biology; Cell biology; Genetics; Gene; Tight junction","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":[0.0001752745,0.0007402985,0.0003446839,0.0008024689,0.0007424459,0.0003055801,0.0006077836,0.001609727,0.003529608],"category_scores_gemma":[0.000992851,0.0002499574,0.0005765088,0.000405866,0.0008421226,0.0002029618,0.0004771406,0.0009963342,0.0003441758],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003345997,"about_ca_system_score_gemma":0.0002686121,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001270282,"about_ca_topic_score_gemma":0.001008463,"domain_scores_codex":[0.999678,0.00006451623,0.00003770257,0.00009209059,0.00005932641,0.00006836078],"domain_scores_gemma":[0.9994191,0.0002362156,0.0001511252,0.00004252844,0.00003233814,0.0001188814],"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":[0.001338782,0.0003144946,0.02209392,0.0001148736,0.0003134906,0.3550603,0.0005712862,0.0005619181,0.6083858,0.002950033,0.0008540979,0.007440979],"study_design_scores_gemma":[0.0006732162,0.002439295,0.216529,0.00006111223,0.0008347676,0.5919599,0.0007833362,0.005063303,0.1676315,0.002398336,0.01146293,0.0001633517],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9963218,0.0001834168,0.001746273,0.000267217,0.00007849013,0.00003381806,0.0001715412,0.00006141532,0.001136088],"genre_scores_gemma":[0.9985431,0.00006459447,0.0006742238,0.00007945461,0.00004690573,0.000007723574,0.00008651283,0.00002748097,0.0004699808],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003529608,"threshold_uncertainty_score":0.01180774,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02833279438526627,"score_gpt":0.2840680723972527,"score_spread":0.2557352780119865,"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."}}