{"id":"W2002724955","doi":"10.1016/j.ymgme.2012.09.012","title":"High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria","year":2012,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":24,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University","funders":"","keywords":"Missense mutation; Genetics; Biology; High Resolution Melt; Methylmalonic acidemia; Complementation; Methylmalonic aciduria; Methylmalonic acid; Molecular biology; Gene; Mutation; Genotype; Mutant; Homocysteine; Biochemistry","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":[0.0003344078,0.0001144102,0.0003283821,0.0003220415,0.00002964402,0.0000103265,0.00005435342,0.00006431495,0.000003981178],"category_scores_gemma":[0.00004175778,0.00006794658,0.00003531765,0.0008987644,0.00008417769,0.000032502,0.00006975214,0.0001379461,1.489654e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001591305,"about_ca_system_score_gemma":0.00003874336,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000258842,"about_ca_topic_score_gemma":0.0001721018,"domain_scores_codex":[0.998941,0.000117182,0.0001866731,0.0001798547,0.0003099264,0.0002653669],"domain_scores_gemma":[0.9994937,0.00002575768,0.00006465119,0.0002523784,0.00007389621,0.00008966276],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002770216,0.0002432454,0.9606686,0.00002677935,0.0004514178,0.000008229097,0.0005878428,0.0004209492,0.03408718,0.0001029219,0.000001920035,0.003123938],"study_design_scores_gemma":[0.002681386,0.00009661626,0.9695982,0.0000349791,0.0007663671,0.000001297781,0.00004425787,0.000431295,0.0261432,0.00001156778,0.000108076,0.00008281473],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9915071,0.007940693,0.00008430363,0.00006659858,0.00002145728,0.000343838,0.000006373526,0.000002469825,0.00002714432],"genre_scores_gemma":[0.9971579,0.0005651021,0.002136061,0.00006946098,0.00001243548,0.00001272814,0.0000171371,0.00001403457,0.00001518159],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008929588,"threshold_uncertainty_score":0.2770781,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008346865625187064,"score_gpt":0.2501420000237363,"score_spread":0.2417951343985493,"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."}}