{"id":"W2405151813","doi":"10.1002/humu.23018","title":"Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in<i>GATM</i>","year":2016,"lang":"en","type":"article","venue":"Human Mutation","topic":"Biochemical and Molecular Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; University of Toronto; Hospital for Sick Children","funders":"National Heart, Lung, and Blood Institute","keywords":"Missense mutation; Biology; Genetics; Exome sequencing; Hypotonia; Exome; Phenotype; Nonsense; Genotype; Allele; Nonsense mutation; In silico; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009896888,0.00006835021,0.00006798843,0.00004658712,0.00002965983,0.000005843721,0.00003311603,0.00007044998,0.00002976574],"category_scores_gemma":[0.00003769192,0.00005246574,0.00002148923,0.00006266339,0.00006857365,0.000005705055,0.00001960871,0.00003010658,0.000002387478],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006445553,"about_ca_system_score_gemma":0.0000215975,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007003614,"about_ca_topic_score_gemma":0.00000724484,"domain_scores_codex":[0.9994152,0.00003447817,0.0001489547,0.0001936044,0.00009934499,0.0001084351],"domain_scores_gemma":[0.9997629,0.000006705655,0.00003347706,0.00009454433,0.00006420533,0.00003817236],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00008303676,0.00005572994,0.00132491,0.00002071261,0.00000471699,0.000004684155,0.00002431166,8.013373e-7,0.9956363,0.000435929,0.00001369994,0.002395136],"study_design_scores_gemma":[0.0008724495,0.0001486415,0.1354667,0.00002252312,0.000004619605,0.00001525641,0.000007150817,0.00001279328,0.86306,0.0001930875,0.0001231149,0.00007369283],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9939502,0.00006522764,0.005518551,0.0001619929,0.00002052086,0.0001084473,0.00001628942,0.000004108119,0.0001546807],"genre_scores_gemma":[0.9993783,0.00005624469,0.00004579109,0.00005099351,0.00004002753,0.000009789589,0.0002189924,0.000008169217,0.0001917246],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1341417,"threshold_uncertainty_score":0.2139491,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01474584870067292,"score_gpt":0.2533309818908725,"score_spread":0.2385851331901996,"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."}}