{"id":"W1518382324","doi":"10.1038/79201","title":"Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome","year":2000,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":321,"is_retracted":false,"has_abstract":false,"ca_institutions":"Simon Fraser University; Memorial University of Newfoundland","funders":"National Eye Institute","keywords":"Bardet–Biedl syndrome; Polydactyly; Biology; Genetics; Frameshift mutation; Gene; Mutation","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00007785553,0.0001839578,0.0001478454,0.00006736482,0.0001122223,0.00003899248,0.0001377859,0.0003442622,0.00008038903],"category_scores_gemma":[0.00005544984,0.0001700021,0.0000410146,0.0001854908,0.0001150485,0.000004698389,0.0000442743,0.0002550364,0.000008962576],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001814458,"about_ca_system_score_gemma":0.0001259322,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000608455,"about_ca_topic_score_gemma":0.0001021662,"domain_scores_codex":[0.998966,0.00005933298,0.0002022269,0.0003049653,0.0001932917,0.0002742242],"domain_scores_gemma":[0.9994469,0.00001190465,0.00005551451,0.0002358255,0.00008870126,0.0001611056],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001595976,0.00306811,0.7594821,0.0003370671,0.001786476,0.001290852,0.001827635,0.01752892,0.1779382,0.00023751,0.02294953,0.01195769],"study_design_scores_gemma":[0.001971754,0.0008217606,0.9762467,0.000091742,0.0001844677,0.0003199954,0.0001076959,0.0003664537,0.01221668,0.0002895965,0.006841408,0.000541708],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964133,0.001675857,0.0000654229,0.0001387953,0.00003681084,0.0002137307,0.0001558383,0.0000150626,0.001285176],"genre_scores_gemma":[0.9967258,0.0003207889,0.001228278,0.0002971012,0.00005414899,0.00002032846,0.00056741,0.00002259442,0.0007635822],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2167647,"threshold_uncertainty_score":0.6932484,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003760634257528809,"score_gpt":0.2178181200510229,"score_spread":0.2140574857934941,"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."}}