{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004117007,0.0003032621,0.0003156096,0.001203679,0.0007216831,0.0004661084,0.0003859653,0.0003393783,0.004206771],"category_scores_gemma":[0.002039882,0.0001502221,0.0002387463,0.0007972406,0.0006270243,0.0001981101,0.0006417552,0.0003347088,0.0002878691],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003301247,"about_ca_system_score_gemma":0.0003762184,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005914561,"about_ca_topic_score_gemma":0.01036232,"domain_scores_codex":[0.9994901,0.00007629745,0.00005463659,0.0001575414,0.0001432469,0.00007814941],"domain_scores_gemma":[0.9989642,0.0004215276,0.0002226854,0.0001180122,0.0001253927,0.0001482385],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009426608,0.0002038045,0.7305385,0.000137146,0.0003993374,0.04294185,0.003096134,0.000370293,0.1878503,0.003511298,0.001523567,0.02848518],"study_design_scores_gemma":[0.0001040202,0.0002402446,0.8671264,0.00005384592,0.0001952411,0.1123669,0.0008121761,0.0009460654,0.009461065,0.001553034,0.007087694,0.00005319662],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966903,0.0002188422,0.0006798664,0.0001061666,0.000008395081,0.00001833188,0.0002851881,0.00001450328,0.001978442],"genre_scores_gemma":[0.9987173,0.0001430647,0.0004878118,0.00006347784,0.00001077492,0.000007614868,0.0002701947,0.00001190481,0.0002877917],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005914561,"threshold_uncertainty_score":0.01407307,"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."}}