{"id":"W2745207393","doi":"10.1136/thoraxjnl-2017-209999","title":"High prevalence of <i>CCDC103</i> p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations","year":2017,"lang":"en","type":"article","venue":"Thorax","topic":"Cystic Fibrosis Research Advances","field":"Medicine","cited_by":91,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institute of Infection and Immunity","funders":"Radboud Universitair Medisch Centrum; Great Ormond Street Hospital for Children; Radboud Universiteit; Deutsche Forschungsgemeinschaft; National Institute of General Medical Sciences; National Institute for Health and Care Research; Great Ormond Street Hospital Charity; University College London; Imperial College London; Action Medical Research; Newlife the Charity for Disabled Children; National Institutes of Health; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; University of Southampton; Royal Brompton and Harefield NHS Foundation Trust; Wellcome Trust","keywords":"Primary ciliary dyskinesia; Situs inversus; Medicine; Cilium; Kartagener Syndrome; Population; Missense mutation; Genetic testing; Motile cilium; Dyskinesia; Pathology; Genetic heterogeneity; Mutation; Internal medicine; Phenotype; Bronchiectasis; Genetics; Disease; Lung; Biology; 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":[0.0003300208,0.0001539407,0.0002950162,0.00009625925,0.0003048493,0.00005772118,0.00009589301,0.00006888575,0.00003483814],"category_scores_gemma":[0.0035183,0.0001299671,0.00002684755,0.0001532402,0.0005501042,0.0005559664,0.00007816796,0.0001668353,0.000003905408],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001048819,"about_ca_system_score_gemma":0.0002240682,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002266192,"about_ca_topic_score_gemma":0.00004396622,"domain_scores_codex":[0.9985793,0.00008080111,0.0002825389,0.0002789309,0.0005380286,0.0002404223],"domain_scores_gemma":[0.9984561,0.0003255995,0.0003633185,0.0004173087,0.0002882541,0.0001494421],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001091484,0.0005342251,0.5489809,0.006132429,0.0002879692,0.0003672106,0.002667039,0.0001502492,0.4187508,0.0004121007,0.0005443824,0.02008123],"study_design_scores_gemma":[0.00119619,0.0004551068,0.9536893,0.001810648,0.0001568253,0.00004842709,0.00004250419,0.0004420411,0.0413284,0.0006572838,0.00002257099,0.0001506695],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962369,0.000288475,0.0008558062,0.001103003,0.00003399963,0.00109147,0.00008469641,0.00004306391,0.0002625801],"genre_scores_gemma":[0.9939675,0.00006366379,0.005211643,0.00007343206,0.00005425762,0.0001098339,0.0001004372,0.00002320994,0.0003960609],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4047084,"threshold_uncertainty_score":0.5299904,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0166034209840531,"score_gpt":0.2899578309377353,"score_spread":0.2733544099536822,"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."}}