{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00004226829,0.0008833707,0.0001610343,0.0004194885,0.0003136305,0.0002051318,0.0002583991,0.0003598677,0.00196116],"category_scores_gemma":[0.0002127875,0.0001776335,0.0001295556,0.0003350367,0.0003570409,0.00009512348,0.000221485,0.0004057621,0.0002057848],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003898342,"about_ca_system_score_gemma":0.0002479226,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01274029,"about_ca_topic_score_gemma":0.01716063,"domain_scores_codex":[0.9999357,0.000003497931,0.000003710243,0.00002401477,0.00001187976,0.00002113008],"domain_scores_gemma":[0.9998708,0.00001232719,0.00004369819,0.000003653592,0.000007182959,0.00006228928],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0005349831,0.0002252331,0.1144578,0.0001337863,0.00008138343,0.6610916,0.0008578816,0.0003321572,0.2000453,0.0009325346,0.002977023,0.01833027],"study_design_scores_gemma":[0.0001488917,0.0009841595,0.3493065,0.00002293076,0.00008820616,0.6171105,0.0003235337,0.0005693182,0.01747138,0.0001925837,0.01372526,0.00005669764],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9959818,0.0005246135,0.0008128628,0.0001430034,0.00003625575,0.00004076577,0.0002805998,0.00004067703,0.002139401],"genre_scores_gemma":[0.9965786,0.0002316842,0.0006682447,0.0001136422,0.00005893275,0.000008324831,0.0002997963,0.000009891309,0.002030881],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01274029,"threshold_uncertainty_score":0.02533227,"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."}}