{"id":"W2170392185","doi":"10.1002/humu.20777","title":"Further evidence for allelic heterogeneity in Hartnup disorder","year":2008,"lang":"en","type":"article","venue":"Human Mutation","topic":"Amino Acid Enzymes and Metabolism","field":"Biochemistry, Genetics and Molecular Biology","cited_by":36,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Sherbrooke","funders":"","keywords":"Biology; Genetics; Allele; Phenotype; Aminoaciduria; Gene; Allelic heterogeneity; Mutation; Genetic heterogeneity; Amino acid","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00008294886,0.0000728079,0.00007077839,0.00002542611,0.00006680212,0.000005848033,0.00006380165,0.00006106784,0.00001680352],"category_scores_gemma":[0.00004274596,0.00007187303,0.00004918948,0.00003086247,0.00003356326,0.000006007749,0.00001834298,0.00002692324,0.000007400155],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006313853,"about_ca_system_score_gemma":0.00001800931,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002993675,"about_ca_topic_score_gemma":0.0002999143,"domain_scores_codex":[0.9994876,0.0000247072,0.0001203034,0.000188176,0.00005516897,0.0001240907],"domain_scores_gemma":[0.9997575,0.000006959744,0.00003873813,0.000135042,0.00003701016,0.00002477347],"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":[0.00014947,0.0001740576,0.05240867,0.00005492557,0.00003969601,0.000009219799,0.001339975,0.0009361248,0.9313787,0.0004860553,0.003403056,0.009620036],"study_design_scores_gemma":[0.002404437,0.0004158574,0.7590464,0.00003277334,0.00002509016,0.00003632324,0.0001687241,0.0003765798,0.1755878,0.0004688819,0.06098443,0.0004527461],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9927796,0.001736722,0.00505381,0.00006469004,0.00005366914,0.0002019558,0.00000313275,0.000006775949,0.00009960408],"genre_scores_gemma":[0.9981858,0.0001659468,0.0005137897,0.0001724857,0.0001454067,0.00006834058,0.00009389228,0.00001240561,0.0006419633],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7557909,"threshold_uncertainty_score":0.2930897,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06755907899628229,"score_gpt":0.3433404260114641,"score_spread":0.2757813470151819,"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."}}