{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001364139,0.0003412672,0.0002261429,0.0004114572,0.000174448,0.0001779342,0.0001297669,0.0003283732,0.0007070336],"category_scores_gemma":[0.0004783289,0.00009054698,0.0003215818,0.0002079854,0.0001911398,0.00008146291,0.0001393877,0.0002205281,0.0002087435],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001004516,"about_ca_system_score_gemma":0.00008328864,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004585257,"about_ca_topic_score_gemma":0.000424462,"domain_scores_codex":[0.9998646,0.00002211529,0.0000255417,0.00003788248,0.00002698279,0.00002297253],"domain_scores_gemma":[0.9998049,0.00006073058,0.00004621059,0.00001691962,0.00002002594,0.00005118809],"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":[0.0005872048,0.0001190351,0.08521713,0.00008357408,0.00006177005,0.01919209,0.0003405977,0.0002724471,0.8856257,0.0001934146,0.0001934225,0.008113571],"study_design_scores_gemma":[0.00005980522,0.00157199,0.6074882,0.00002549551,0.0001296154,0.1048953,0.0003035571,0.003090116,0.2792767,0.0002822269,0.002836207,0.00004073903],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991325,0.00009331624,0.0003972265,0.00002076291,0.000004316443,0.000007248507,0.0001810617,0.000008582732,0.0001550741],"genre_scores_gemma":[0.9984949,0.00006049001,0.0008481221,0.00002064956,0.000005877888,0.000005382723,0.0003808022,0.000007474925,0.0001763304],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0007070336,"threshold_uncertainty_score":0.002365232,"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."}}