{"id":"W2086720403","doi":"10.1016/j.ajhg.2012.05.004","title":"Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation","year":2012,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Trypanosoma species research and implications","field":"Medicine","cited_by":146,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto","funders":"Bundesministerium für Forschung und Technologie; Ministry of Health, Labour and Welfare; Ministry of Education, Culture, Sports, Science and Technology","keywords":"Sanger sequencing; Mutation; Biology; Compound heterozygosity; Mutant; Gene; Exome sequencing; Genetics; Hypophosphatasia; Molecular biology; Cell biology; Alkaline phosphatase; Enzyme; Biochemistry","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":[0.0001643332,0.002569129,0.0003129367,0.001627143,0.0006100644,0.0004041402,0.000610489,0.00163919,0.002138858],"category_scores_gemma":[0.0009586946,0.0003653463,0.000510783,0.0006023277,0.001513875,0.0002409296,0.0007179549,0.00074535,0.0003676703],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005153114,"about_ca_system_score_gemma":0.0004333676,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003234963,"about_ca_topic_score_gemma":0.002942148,"domain_scores_codex":[0.9997923,0.00004347417,0.00002605709,0.00004371427,0.00006492711,0.00002944133],"domain_scores_gemma":[0.9993122,0.0002597393,0.0002198685,0.00002894015,0.00002788189,0.0001513369],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.002799291,0.0003480669,0.02520487,0.0002905042,0.0004842949,0.2280209,0.0009077871,0.001929811,0.7203059,0.004632026,0.001707246,0.01336932],"study_design_scores_gemma":[0.001041515,0.001296946,0.1938889,0.0003286921,0.001306692,0.4451866,0.001411563,0.009124226,0.3225545,0.006064699,0.01755816,0.0002374232],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9912812,0.0006844703,0.003005762,0.0006551245,0.0001594235,0.00005115799,0.0005599075,0.0001926946,0.003410299],"genre_scores_gemma":[0.9967436,0.0003447284,0.001573968,0.0001121019,0.00004676153,0.00002014041,0.0002452387,0.00004186878,0.0008715924],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003234963,"threshold_uncertainty_score":0.00715518,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0389701952385965,"score_gpt":0.32047780414649,"score_spread":0.2815076089078934,"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."}}