{"id":"W1981111804","doi":"10.1006/mgme.2001.3158","title":"Recurrent Mutations in P- and T-Proteins of the Glycine Cleavage Complex and a Novel T-Protein Mutation (N145I): A Strategy for the Molecular Investigation of Patients with Nonketotic Hyperglycinemia (NKH)","year":2001,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":32,"is_retracted":false,"has_abstract":false,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"Sick Kids Foundation","keywords":"Hyperglycinemia; Allele; Point mutation; Molecular biology; Glycine cleavage system; Mutation; Glycine; Genetics; Genotype; Biology; Chemistry; Gene; Amino acid","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":[0.0001519316,0.0005679893,0.0002746735,0.0004952309,0.0002455698,0.0003515581,0.0003768979,0.0005774042,0.0006785111],"category_scores_gemma":[0.0005163997,0.0001572472,0.0003107782,0.0002960203,0.000504738,0.0002488972,0.0003102456,0.0005900737,0.0001707099],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001607314,"about_ca_system_score_gemma":0.0001373164,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006929887,"about_ca_topic_score_gemma":0.0005637177,"domain_scores_codex":[0.999868,0.00002280325,0.00002090156,0.00004371333,0.000028361,0.00001616846],"domain_scores_gemma":[0.9997826,0.00006830582,0.00004794708,0.0000171437,0.00001742241,0.00006661809],"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":[0.001442904,0.000173371,0.02244737,0.00007151806,0.0000716158,0.03134611,0.0002285976,0.0002557789,0.9291705,0.000562553,0.0004108949,0.01381864],"study_design_scores_gemma":[0.0006110449,0.003120637,0.1387217,0.00003746096,0.0003911859,0.2657116,0.0003550654,0.007210619,0.5788224,0.001172131,0.00375722,0.00008890918],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9930559,0.0004934195,0.004974569,0.0001286928,0.00003077793,0.00005568201,0.0001612131,0.00007001093,0.00102984],"genre_scores_gemma":[0.9960777,0.0001813425,0.003328714,0.00005773988,0.00002020603,0.0000218446,0.0001104632,0.00001854107,0.0001832787],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0006929887,"threshold_uncertainty_score":0.002269864,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01311916794606265,"score_gpt":0.2294576558643187,"score_spread":0.2163384879182561,"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."}}