{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005716929,0.0004587874,0.0003875847,0.0008237592,0.0004226406,0.0005751495,0.0003853503,0.0005782769,0.00306581],"category_scores_gemma":[0.003418317,0.0002473637,0.0002483923,0.0008395639,0.0007764472,0.0002836342,0.0004899589,0.0004043352,0.0004232264],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003028481,"about_ca_system_score_gemma":0.0002842924,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003759374,"about_ca_topic_score_gemma":0.002494445,"domain_scores_codex":[0.9989241,0.0001537462,0.0001944208,0.0003309596,0.0002675557,0.0001291278],"domain_scores_gemma":[0.9967073,0.0009361554,0.001509745,0.0002017952,0.0003034743,0.0003416505],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001444024,0.00002112958,0.9816056,0.00003899079,0.00002223396,0.006957114,0.0001402193,0.00007627236,0.008231468,0.00004703882,0.0001433002,0.002572146],"study_design_scores_gemma":[0.00001025683,0.0002230226,0.9397301,0.00002750636,0.00005076129,0.0554219,0.0003345493,0.0004544304,0.003296108,0.00008259826,0.0003582865,0.00001053456],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985172,0.0002010797,0.0001640765,0.00004755349,0.000005577832,0.00001018527,0.0001001768,0.00001446656,0.0009396678],"genre_scores_gemma":[0.9996585,0.0000572961,0.0001219964,0.00002381265,0.000005283096,0.000002305816,0.00006867694,0.000003510709,0.00005874043],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003759374,"threshold_uncertainty_score":0.01025623,"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."}}