{"id":"W3103845486","doi":"10.1111/trf.16193","title":"A novel variant <i>DO*A</i> allele with <scp>a c.370delT</scp> mutation leading to a <scp>DO</scp>‐null phenotype in a <scp>Syrian</scp> family","year":2020,"lang":"en","type":"article","venue":"Transfusion","topic":"Blood disorders and treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Héma-Québec; Université de Sherbrooke","funders":"","keywords":"Phenotype; Allele; Mutation; Genetics; Biology; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001597903,0.001408426,0.0005105786,0.001268086,0.001050944,0.0007243925,0.0006868195,0.001992351,0.005611609],"category_scores_gemma":[0.0008572041,0.0003117491,0.0007603735,0.0008710145,0.001257998,0.000270044,0.0005235456,0.001148113,0.0009111002],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004311068,"about_ca_system_score_gemma":0.0004715795,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003291064,"about_ca_topic_score_gemma":0.002553601,"domain_scores_codex":[0.9997568,0.00002387,0.00002614919,0.00008545436,0.00005030736,0.00005753528],"domain_scores_gemma":[0.9993142,0.0002436848,0.000161078,0.00004409775,0.00003979229,0.0001972377],"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":[0.0004281318,0.0001037839,0.0154413,0.00006938533,0.0001110991,0.8947725,0.0005180819,0.0002859151,0.07808064,0.002085198,0.002209155,0.005894869],"study_design_scores_gemma":[0.0001587657,0.0003103579,0.06464089,0.00007572117,0.0002520085,0.901179,0.0003418221,0.0008130008,0.0177766,0.001557713,0.01281664,0.00007746511],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9848362,0.0008432771,0.002014884,0.001501275,0.0003644788,0.00007234159,0.001201532,0.0001363395,0.009029605],"genre_scores_gemma":[0.9941164,0.0003048393,0.001032781,0.0003746942,0.0002372308,0.00001786046,0.0004747571,0.00005483558,0.003386513],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005611609,"threshold_uncertainty_score":0.01877266,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.011907812429924,"score_gpt":0.2227251835611691,"score_spread":0.2108173711312451,"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."}}