{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004339724,0.0001115426,0.0003320468,0.00004885717,0.00006951595,0.00001147459,0.00006928073,0.0001342558,0.000005317728],"category_scores_gemma":[0.0003425052,0.00009284379,0.00006779579,0.00005751655,0.0002515726,0.00001991752,0.00001913468,0.0002009291,3.33502e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004373534,"about_ca_system_score_gemma":0.00005239554,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007313714,"about_ca_topic_score_gemma":0.0001816517,"domain_scores_codex":[0.9985476,0.0001181762,0.0009150771,0.0001904335,0.000119505,0.0001092625],"domain_scores_gemma":[0.999024,0.00006038923,0.0005584633,0.0001023831,0.00009926129,0.0001554869],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000438654,0.00008478917,0.6444736,0.00002242582,0.00008778065,0.00004329628,0.000816596,0.0001247185,0.3501943,0.000080547,0.000610274,0.003023072],"study_design_scores_gemma":[0.002618796,0.0002561165,0.9886072,0.00006412495,0.00005858576,0.00004189086,0.0001653668,0.0001967597,0.005737975,0.0007323886,0.001405224,0.0001155743],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979634,0.0008239879,0.0002326278,0.0007109917,0.0001105367,0.00008867779,0.0000155977,0.000003117304,0.00005110927],"genre_scores_gemma":[0.9931369,0.0004763069,0.005256035,0.0003357188,0.0006415661,0.000001307305,0.00008182681,0.00001211326,0.00005816242],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3444563,"threshold_uncertainty_score":0.378606,"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."}}