{"id":"W2168689164","doi":"10.1002/humu.20258","title":"Spectrum of mutations in<i>mut</i>methylmalonic acidemia and identification of a common Hispanic mutation and haplotype","year":2005,"lang":"en","type":"article","venue":"Human Mutation","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":121,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University and Génome Québec Innovation Centre; McGill University Health Centre; McGill University","funders":"","keywords":"Genetics; Biology; Nonsense mutation; Methylmalonic acidemia; Missense mutation; Mutation; Exon; Haplotype; Compound heterozygosity; INDEL Mutation; Frameshift mutation; Molecular biology; Gene; Allele; Genotype; Single-nucleotide polymorphism","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0002526136,0.00008354533,0.0001325618,0.0001113985,0.00003955573,0.000009922361,0.00005159546,0.00007476188,0.000009269567],"category_scores_gemma":[0.00005700054,0.00009379307,0.0000236926,0.00009884661,0.0001038338,0.00001367467,0.00002267756,0.00004124656,0.00000140817],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004510918,"about_ca_system_score_gemma":0.00002379582,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005216429,"about_ca_topic_score_gemma":0.0006496352,"domain_scores_codex":[0.9991773,0.00007016039,0.0003775035,0.0001943154,0.00008963302,0.00009110305],"domain_scores_gemma":[0.9995496,0.00001700675,0.0002158816,0.0001430131,0.00004766292,0.00002677983],"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":[0.00005987221,0.0001464424,0.01976999,0.0001228026,0.00003571613,8.273489e-7,0.001547284,0.001546407,0.9519047,0.003173141,0.00005229861,0.02164054],"study_design_scores_gemma":[0.001261966,0.0001997408,0.7451246,0.00002097002,0.00005793732,0.00001198275,0.0003824959,0.001128859,0.2461938,0.005272972,0.0001966206,0.0001481154],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9965872,0.001664306,0.001262544,0.0001251829,0.00002713971,0.0001955581,0.000009569516,0.000004535912,0.0001239646],"genre_scores_gemma":[0.998952,0.0001775534,0.0005116867,0.00002710934,0.00002730508,0.0000144883,0.0002067449,0.00001074823,0.00007239747],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7253546,"threshold_uncertainty_score":0.382477,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008375119461850794,"score_gpt":0.271528097204247,"score_spread":0.2631529777423962,"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."}}