{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001692204,0.0001969209,0.0002368227,0.00006712427,0.00007821903,0.00002153565,0.0001317022,0.00008987296,0.000001838095],"category_scores_gemma":[0.00007027988,0.000134749,0.0000486419,0.000206519,0.000320449,0.000005737342,0.00009193359,0.00007233052,4.44076e-8],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000001937246,"about_ca_system_score_gemma":0.0000642841,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006358398,"about_ca_topic_score_gemma":0.00009622204,"domain_scores_codex":[0.9988889,0.0000763178,0.000333663,0.0003207547,0.0001929192,0.0001874708],"domain_scores_gemma":[0.9992426,0.00001818599,0.0001983797,0.0003093975,0.0001645457,0.00006688147],"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":[0.0002401403,0.0001161821,0.006339069,0.0001104948,0.0001041906,0.000001005751,0.0003507572,0.001548634,0.9726278,0.002687661,0.000008949111,0.01586508],"study_design_scores_gemma":[0.004872877,0.0004190684,0.798521,0.00005329751,0.0002404849,0.00000857239,0.0003177612,0.001812074,0.1907303,0.001631933,0.001112416,0.0002802028],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9759092,0.007902551,0.0145706,0.0002258326,0.00003623666,0.001248531,0.00007597449,0.000002213156,0.00002890401],"genre_scores_gemma":[0.9956735,0.0004460264,0.003535151,0.0001200345,0.00001685418,0.00008413606,0.00008782831,0.00002492294,0.00001148158],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.792182,"threshold_uncertainty_score":0.5494905,"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."}}