{"id":"W2082720266","doi":"10.1172/jci36625","title":"Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters","year":2008,"lang":"en","type":"article","venue":"Journal of Clinical Investigation","topic":"Amino Acid Enzymes and Metabolism","field":"Biochemistry, Genetics and Molecular Biology","cited_by":116,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Sherbrooke","funders":"National Health and Medical Research Council; Australian Research Council; Medical Research Council; University of Sydney; Université de Sherbrooke","keywords":"Genetics; Gene; Phenotype; Biology; Allele; Transporter; Amino acid; Amino acid transporter; Mendelian inheritance; Glycine; Mutation; Proline; Mutagenesis","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":[0.00009751043,0.0007216019,0.0002523815,0.0005396517,0.000166153,0.0002198257,0.0001408196,0.0002620151,0.001686273],"category_scores_gemma":[0.0002917142,0.000145122,0.0001515399,0.000426267,0.0003343494,0.0001662289,0.0003450528,0.0002430884,0.0001670851],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001296217,"about_ca_system_score_gemma":0.0001550884,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006002314,"about_ca_topic_score_gemma":0.0005803978,"domain_scores_codex":[0.9998868,0.00001650789,0.00001171123,0.00003507375,0.00002831769,0.00002160356],"domain_scores_gemma":[0.9998569,0.00002210376,0.00006455431,0.000006817751,0.000008876451,0.00004069805],"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":[0.00165454,0.000187515,0.2636711,0.000413924,0.0003082515,0.09285072,0.000802929,0.001095782,0.5971058,0.00162929,0.001047805,0.03923236],"study_design_scores_gemma":[0.00009707619,0.0004924816,0.7291643,0.00005623673,0.0002651311,0.1949479,0.0004185267,0.001693592,0.06669112,0.001286382,0.004842522,0.0000448068],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958246,0.0007726346,0.001678676,0.0000688817,0.000009335702,0.00001883304,0.0002023782,0.00007174987,0.001352828],"genre_scores_gemma":[0.9973372,0.0006188172,0.001191927,0.00004782597,0.00001653242,0.000007335042,0.0002366069,0.00002020709,0.000523593],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001686273,"threshold_uncertainty_score":0.005641162,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07802675084849116,"score_gpt":0.3483201242333176,"score_spread":0.2702933733848265,"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."}}