{"id":"W2104938256","doi":"10.1186/s13023-015-0243-8","title":"The genotypic and phenotypic spectrum of PIGA deficiency","year":2015,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Complement system in diseases","field":"Immunology and Microbiology","cited_by":87,"is_retracted":false,"has_abstract":true,"ca_institutions":"Acuitas Therapeutics (Canada); World Wildlife Fund Canada; Intertek (Canada); Child and Family Research Institute; Women's Health Research Institute; BC Children's Hospital; Spinal Cord Injury BC; Pacific Centre for Reproductive Medicine; British Columbia Centre of Excellence for Women's Health; Pancreas Centre (Canada); Canadian MPS Society for Mucopolysaccharide and Related Diseases; University of British Columbia","funders":"Canadian Institutes of Health Research; Genome British Columbia; Michael Smith Health Research BC; Children's Hospital Foundation; Genome Canada","keywords":"Missense mutation; Biology; Genetics; Frameshift mutation; Global developmental delay; Germline; Germline mutation; Compound heterozygosity; Mutation; Phenotype; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002835409,0.0001325196,0.000282705,0.00009152801,0.000134865,0.00002433437,0.0003489915,0.00004200446,0.0002678117],"category_scores_gemma":[0.000330481,0.00008458301,0.000109014,0.0001052983,0.0002680252,0.0001069702,0.00009011388,0.0001003636,0.00003418194],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003152737,"about_ca_system_score_gemma":0.0002318135,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001581892,"about_ca_topic_score_gemma":0.00001110322,"domain_scores_codex":[0.9988186,0.0002243071,0.000493241,0.0001153028,0.000109897,0.0002385974],"domain_scores_gemma":[0.998734,0.0002763983,0.0004830881,0.0002263156,0.0001853896,0.00009479569],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004858798,0.001511715,0.7784335,0.000388533,0.001306634,0.0002125092,0.001847325,0.0001533505,0.02359178,0.01235366,0.1476978,0.02764441],"study_design_scores_gemma":[0.009974144,0.002768868,0.8460407,0.0005442688,0.001486281,0.001986318,0.007932332,0.00001253289,0.01153287,0.02113203,0.09582162,0.0007680788],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.867626,0.1308652,0.00005732835,0.0002563551,0.0006938708,0.0001411839,0.00009277841,0.00001170174,0.0002556184],"genre_scores_gemma":[0.9993621,0.0002780129,0.0000194139,0.00003482802,0.00007267112,0.00000281961,0.00001303701,0.00001019377,0.000206932],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1317362,"threshold_uncertainty_score":0.3449195,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01772513966281847,"score_gpt":0.2486812104268789,"score_spread":0.2309560707640604,"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."}}