{"id":"W4248009647","doi":"10.1007/s004390000244","title":"Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297–1G→A)","year":2000,"lang":"en","type":"article","venue":"Human Genetics","topic":"Cystic Fibrosis Research Advances","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children","funders":"Consejo Nacional de Ciencia y Tecnología","keywords":"Biology; Genetics; Cystic fibrosis; Cystic fibrosis transmembrane conductance regulator; Heteroduplex; Mutation; Gene; Population; Single-strand conformation polymorphism; Multiplex polymerase chain reaction; Molecular biology; Polymerase chain reaction; Medicine","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":[0.0001697228,0.0005657052,0.0002729159,0.001049913,0.0005947789,0.0002121215,0.0002619432,0.0005696662,0.00185341],"category_scores_gemma":[0.0006756065,0.0001828332,0.0002713581,0.0005721792,0.0004394504,0.0001655846,0.0002936395,0.0002720825,0.0001927554],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002689071,"about_ca_system_score_gemma":0.0001883826,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00391082,"about_ca_topic_score_gemma":0.00322403,"domain_scores_codex":[0.9998958,0.00001306097,0.00001406168,0.00003048108,0.00001952408,0.00002698517],"domain_scores_gemma":[0.9997993,0.00004303536,0.0000589747,0.000009027037,0.00002114647,0.0000685781],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002340872,0.0003566791,0.7573811,0.00007755044,0.0001249607,0.1230816,0.001724512,0.0004450505,0.09688319,0.0004442552,0.001003462,0.0161368],"study_design_scores_gemma":[0.0001356199,0.0005342181,0.8365149,0.00002306397,0.0001705036,0.1566681,0.0009485756,0.000548111,0.003247672,0.0001593051,0.001023439,0.00002641192],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991409,0.000111724,0.00009216197,0.00008644813,0.000003281681,0.000004802868,0.0001189322,0.00000636947,0.0004352774],"genre_scores_gemma":[0.9995963,0.00007005604,0.0001100526,0.00003497993,0.000004861235,0.000003733442,0.00008054324,0.000002248875,0.0000972745],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00391082,"threshold_uncertainty_score":0.007776082,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0171498589026895,"score_gpt":0.3081491883911953,"score_spread":0.2909993294885058,"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."}}