{"id":"W2800841088","doi":"10.1038/s41467-017-02306-5","title":"A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients","year":2017,"lang":"en","type":"article","venue":"Nature Communications","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":90,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre","funders":"Institut National de la Santé et de la Recherche Médicale; Agence Nationale de la Recherche","keywords":"Genetics; Biology; Loss of heterozygosity; Allele; Gene","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":[0.0002270909,0.0001007043,0.0001760907,0.00017372,0.000455832,0.00006692098,0.0007825508,0.0002409192,0.0000833234],"category_scores_gemma":[0.0009061545,0.00008833289,0.00005564032,0.0001398115,0.0001704717,0.0002224752,0.0003723089,0.001342253,0.00005992187],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001082714,"about_ca_system_score_gemma":0.0001788962,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002851344,"about_ca_topic_score_gemma":0.004561659,"domain_scores_codex":[0.9990734,0.00008562853,0.0002166374,0.0001703827,0.0002501913,0.000203798],"domain_scores_gemma":[0.9970729,0.0001287644,0.0001050325,0.002330945,0.0002742335,0.00008814556],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000222462,0.002266622,0.9223632,0.0001147167,0.0001706634,0.00005059761,0.001920217,0.000002025412,0.006055254,0.003187356,0.01113239,0.05251448],"study_design_scores_gemma":[0.001683394,0.0001155985,0.9305851,0.00006950726,0.00002475318,0.000008077972,0.0000978395,0.000438252,0.0006267246,0.0001723928,0.06607945,0.00009887448],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.960466,0.001988175,0.000003215542,0.0103231,0.00007789049,0.0006550732,0.00004730355,0.00004175991,0.02639749],"genre_scores_gemma":[0.9968573,0.0007198266,0.0008938949,0.000398713,0.00002987667,0.00006359546,0.0004129582,0.00001740573,0.0006063862],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05494706,"threshold_uncertainty_score":0.5831494,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03826757050555932,"score_gpt":0.3891029185163105,"score_spread":0.3508353480107512,"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."}}