{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001355917,0.00115521,0.000269258,0.0008292155,0.0002865542,0.0002414054,0.0003238855,0.0004488775,0.003503547],"category_scores_gemma":[0.0005998971,0.0001144932,0.0001898513,0.0003738332,0.0004767603,0.0001615218,0.0005869206,0.0002088148,0.0003976581],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001268209,"about_ca_system_score_gemma":0.0002341675,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005665325,"about_ca_topic_score_gemma":0.0005079236,"domain_scores_codex":[0.9998311,0.00002275192,0.00001999963,0.00005024427,0.00004626406,0.00002958941],"domain_scores_gemma":[0.999826,0.00004932129,0.00003844591,0.00001081012,0.00002201476,0.00005339432],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.000916568,0.0002688938,0.3132517,0.0003043586,0.0001234883,0.4396967,0.0009736688,0.00086461,0.1834925,0.001797307,0.002321374,0.05598895],"study_design_scores_gemma":[0.00004725272,0.0003529047,0.2214293,0.00008119324,0.00009274239,0.7624244,0.00036718,0.0006643359,0.008240353,0.000878632,0.005398719,0.00002304353],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9895347,0.000794743,0.001112481,0.0002577872,0.00002354532,0.00003521295,0.0006292377,0.00009779986,0.007514493],"genre_scores_gemma":[0.9982319,0.0002887097,0.0006717735,0.00008970324,0.00002302425,0.0000161119,0.0002242096,0.00001563616,0.0004389406],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003503547,"threshold_uncertainty_score":0.0117206,"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."}}