{"id":"W2111131285","doi":"10.1002/ajmg.a.36036","title":"Broadening the ciliopathy spectrum: Motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the <i>INVS</i>/<i>NPHP2</i> gene","year":2013,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":25,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen's University; Mount Sinai Hospital; SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Nephronophthisis; Ciliopathy; Situs inversus; Joubert syndrome; Cilium; Ciliopathies; Biology; Genetics; Mutation; Exon; Gene; Anatomy","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":[0.0001641218,0.0008196618,0.0003715606,0.001276211,0.0004530633,0.0002739645,0.0003092445,0.000677082,0.001543591],"category_scores_gemma":[0.0004068873,0.0001711123,0.0002626757,0.0003730347,0.0007517597,0.0002591333,0.0005365566,0.0004804584,0.0003179826],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002527845,"about_ca_system_score_gemma":0.0002680432,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001389838,"about_ca_topic_score_gemma":0.001941547,"domain_scores_codex":[0.9998176,0.00001863445,0.00002473344,0.00004865375,0.00004682775,0.0000435224],"domain_scores_gemma":[0.9998154,0.00004187467,0.00004131824,0.000007458816,0.00002218704,0.00007174793],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0004075352,0.0001158976,0.1050718,0.000112547,0.00004856654,0.7128228,0.0005283064,0.0002447655,0.1563085,0.00101303,0.0009319904,0.02239432],"study_design_scores_gemma":[0.00004884937,0.0002637618,0.09517554,0.00003951083,0.00007236018,0.8836365,0.0002624706,0.0005416166,0.01762943,0.0005131294,0.001801563,0.00001526174],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9909067,0.001190053,0.0015342,0.0005285523,0.00003028851,0.00002273981,0.0001236599,0.0001340378,0.005529809],"genre_scores_gemma":[0.9981551,0.0004488659,0.0007070115,0.0001787714,0.00004594563,0.00000400312,0.00004891969,0.00001520553,0.000396275],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001543591,"threshold_uncertainty_score":0.005163789,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005044061661763917,"score_gpt":0.2203829118518807,"score_spread":0.2153388501901168,"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."}}