{"id":"W2051779095","doi":"10.1002/humu.22511","title":"Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the<i>GAMT</i>Gene","year":2014,"lang":"en","type":"article","venue":"Human Mutation","topic":"Muscle metabolism and nutrition","field":"Biochemistry, Genetics and Molecular Biology","cited_by":47,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; SickKids Foundation; University of Toronto","funders":"Hospital for Sick Children","keywords":"Missense mutation; Biology; Creatine; Genetics; Gene; Mutant; In silico; Molecular biology; Phenotype; Biochemistry","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":[0.0002079796,0.00121764,0.0006890646,0.0009442182,0.0008959698,0.0005754582,0.0005716602,0.0008499872,0.001636383],"category_scores_gemma":[0.001382844,0.0006513138,0.0005162693,0.0007594527,0.0008847146,0.0003083675,0.0006859857,0.0005151147,0.0003758974],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004423336,"about_ca_system_score_gemma":0.0002413089,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00179125,"about_ca_topic_score_gemma":0.00110751,"domain_scores_codex":[0.9995269,0.00003713414,0.00006957541,0.0002023022,0.00006587153,0.00009825104],"domain_scores_gemma":[0.9994111,0.0001596245,0.0001378889,0.0000540338,0.00005291259,0.0001844641],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001011387,0.0005188269,0.559521,0.0001435909,0.0001362757,0.3736997,0.002073401,0.0003048802,0.03995613,0.000427622,0.0009988688,0.02120827],"study_design_scores_gemma":[0.0001381606,0.001284541,0.4131325,0.00003401627,0.0001241486,0.5748045,0.0005114669,0.0004486221,0.005564357,0.0002640978,0.003628127,0.00006546779],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980451,0.0002773357,0.0007133777,0.00008280225,0.00002013305,0.00002747858,0.0001480991,0.00002651207,0.0006591463],"genre_scores_gemma":[0.9976975,0.0002057741,0.0008956817,0.0001881417,0.00003579294,0.00002764172,0.0002809497,0.00001452298,0.0006538539],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00179125,"threshold_uncertainty_score":0.005474269,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01061689791544772,"score_gpt":0.2086310329015059,"score_spread":0.1980141349860581,"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."}}