{"id":"W1992989994","doi":"10.1038/ng1062","title":"Mutations in SBDS are associated with Shwachman–Diamond syndrome","year":2002,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Blood disorders and treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":795,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"","keywords":"Biology; Pseudogene; Genetics; Gene; Exon; Intron; Conserved sequence; Genome; Peptide sequence","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":[0.0002080996,0.001055124,0.0006623669,0.0015315,0.0005217877,0.0004231185,0.0005884183,0.001551729,0.004430005],"category_scores_gemma":[0.001263547,0.0002889716,0.0003987629,0.0008358382,0.001123212,0.000297316,0.000579625,0.0007113273,0.0007196239],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002773733,"about_ca_system_score_gemma":0.000321401,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001997089,"about_ca_topic_score_gemma":0.001493283,"domain_scores_codex":[0.999732,0.0000364966,0.0000397961,0.00006318195,0.00008605808,0.00004250849],"domain_scores_gemma":[0.9992138,0.0003055317,0.0002103087,0.00003447109,0.0000553339,0.0001804403],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.002367055,0.0002452175,0.07279552,0.0003376892,0.0004395222,0.3090476,0.001060784,0.001114095,0.5706442,0.005291056,0.004144892,0.03251241],"study_design_scores_gemma":[0.0008060922,0.0007901264,0.2413483,0.0001888298,0.0008683628,0.5452606,0.001063777,0.005221129,0.1671201,0.006522719,0.0306311,0.0001787503],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9915193,0.001134943,0.002505921,0.0004776297,0.0001272556,0.00002917361,0.0006012517,0.0001378484,0.003466628],"genre_scores_gemma":[0.9972827,0.0002310934,0.001325371,0.00009403208,0.00005295366,0.00000961665,0.0002125473,0.00002921711,0.00076258],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004430005,"threshold_uncertainty_score":0.0148198,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006130153625328871,"score_gpt":0.220545048834381,"score_spread":0.2144148952090522,"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."}}