{"id":"W2078299041","doi":"10.1111/j.1399-0004.2008.01139_2.x","title":"Cilia get serious: Meckel–Gruber and Bardet–Biedl syndromes represent a spectrum of allelic disorders","year":2008,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Bardet–Biedl syndrome; Cilium; Allele; Genetics; Medicine; Biology; Phenotype; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002216456,0.0007995893,0.0004897831,0.001205727,0.0007655206,0.0004099856,0.0003085342,0.001032012,0.004798399],"category_scores_gemma":[0.0009764736,0.0002166684,0.0002297131,0.0005235865,0.0007671132,0.0004822511,0.001153683,0.0005990632,0.0007236845],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002559976,"about_ca_system_score_gemma":0.000316129,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001175956,"about_ca_topic_score_gemma":0.00159494,"domain_scores_codex":[0.9997755,0.00001766242,0.00001998281,0.00004847348,0.00007385039,0.00006443797],"domain_scores_gemma":[0.9996841,0.00005996459,0.00007613306,0.00001821711,0.00003762823,0.0001238878],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001173958,0.0001161529,0.1521708,0.0002107653,0.0001723438,0.6049764,0.000800686,0.0004696681,0.1589106,0.004690766,0.006429988,0.06987785],"study_design_scores_gemma":[0.0001038481,0.0001565312,0.1277389,0.00004774497,0.0001165304,0.8560093,0.0003302345,0.000450282,0.008171872,0.00155394,0.005284382,0.00003637684],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.979014,0.002388923,0.002129458,0.001804587,0.0000748173,0.00004154416,0.0003740175,0.0002487348,0.01392396],"genre_scores_gemma":[0.9969728,0.0003566801,0.0009588926,0.0004001575,0.00005278767,0.000008616744,0.0001108783,0.00002904129,0.001110157],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004798399,"threshold_uncertainty_score":0.01605231,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0273566648531707,"score_gpt":0.3098106069945298,"score_spread":0.2824539421413591,"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."}}