{"id":"W2808983856","doi":"10.1111/cge.13408","title":"<i>IFT80</i> mutations cause a novel complex ciliopathy phenotype with retinal degeneration","year":2018,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto; SickKids Foundation","funders":"","keywords":"Ciliopathy; Ciliopathies; Cilium; Biology; Phenotype; Genetics; Joubert syndrome; Bardet–Biedl syndrome; Mutation; Gene","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":[0.0002038568,0.0002049752,0.0001949239,0.00002880465,0.0001762751,0.00004071684,0.000226836,0.0001840211,0.00006730128],"category_scores_gemma":[0.0002340108,0.0001807024,0.0001057393,0.0001414945,0.0005773203,0.000002542782,0.0001062742,0.0001011029,0.00008766824],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007473809,"about_ca_system_score_gemma":0.000299877,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000004298219,"about_ca_topic_score_gemma":0.00008217561,"domain_scores_codex":[0.998421,0.00008864787,0.0004637348,0.0005288641,0.0002007921,0.0002970047],"domain_scores_gemma":[0.9985713,0.00003110156,0.0001379174,0.0005574618,0.0003939813,0.0003081964],"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":[0.001059107,0.001233904,0.06602307,0.00003948039,0.0002878768,0.000014429,0.0001455756,0.0004342367,0.8824841,0.0001800107,0.04243165,0.005666535],"study_design_scores_gemma":[0.008228205,0.01282823,0.3577165,0.00007298067,0.0008670422,0.0001183855,0.0003092685,0.003837706,0.2636561,0.0004703628,0.3500591,0.001836153],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9693961,0.0003432418,0.02723997,0.0002507017,0.0002984297,0.0002672069,0.0001025499,0.00002791635,0.002073959],"genre_scores_gemma":[0.973389,0.0001255394,0.02198015,0.001984458,0.001533373,0.00002150351,0.0004415249,0.00003865386,0.000485841],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6188281,"threshold_uncertainty_score":0.7368832,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06377070318233102,"score_gpt":0.3481844120977041,"score_spread":0.2844137089153731,"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."}}