{"id":"W2082596712","doi":"10.1080/03630260802173593","title":"Hb Montreal II: A Novel Elongated β-Globin Variant Caused by a Frameshift Mutation [β142 (−C)]","year":2008,"lang":"en","type":"article","venue":"Hemoglobin","topic":"Hemoglobinopathies and Related Disorders","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hôpital Notre-Dame; Université de Montréal; Hôpital Maisonneuve-Rosemont; Centre Hospitalier de l’Université de Montréal; Institute for Research in Immunology and Cancer","funders":"","keywords":"Frameshift mutation; Stop codon; Genetics; Molecular biology; Nucleotide; Histidine; Hemoglobin; Mutation; Globin; Biology; GenBank; Hemoglobinopathy; Nonsense mutation; Gene; Amino acid; Hemolytic anemia; Biochemistry; Missense mutation","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002211341,0.0004803616,0.0006740332,0.0002029899,0.0005405573,0.00003052209,0.0001884292,0.0005885223,0.0004635903],"category_scores_gemma":[0.0002141714,0.0004207225,0.0002483963,0.000826575,0.0002474334,0.0001771134,0.00009463647,0.0006731733,0.0002899864],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002468473,"about_ca_system_score_gemma":0.0004039192,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001669564,"about_ca_topic_score_gemma":0.00006874296,"domain_scores_codex":[0.9970707,0.00006727959,0.0006925493,0.0007091537,0.0006394179,0.000820959],"domain_scores_gemma":[0.9984215,0.00006992698,0.0002005004,0.0005960734,0.0002097567,0.0005022448],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00284664,0.01113249,0.01268749,0.0005836987,0.00194907,0.01439178,0.01881631,0.0006670319,0.2334638,0.001931545,0.6793529,0.02217713],"study_design_scores_gemma":[0.1399582,0.01060009,0.2350453,0.002477556,0.003144199,0.0370498,0.007067961,0.06859115,0.07726979,0.001750255,0.4087343,0.00831141],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9770762,0.001310571,0.002297885,0.003900489,0.0004212197,0.001135339,0.0001469437,0.000551726,0.01315967],"genre_scores_gemma":[0.9886924,0.0003910967,0.001217827,0.002233267,0.0001260568,0.00005503216,0.0005010807,0.00009309434,0.006690124],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2706187,"threshold_uncertainty_score":0.9998245,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01099094517910755,"score_gpt":0.2285711954403832,"score_spread":0.2175802502612756,"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."}}