{"id":"W2040910538","doi":"10.1046/j.1365-2141.2000.01882.x","title":"New genotypes in Fy(a− b−) individuals: nonsense mutations (Trp to stop) in the coding sequence of either <i>FY A</i> or <i>FY B</i>","year":2000,"lang":"en","type":"article","venue":"British Journal of Haematology","topic":"Blood groups and transfusion","field":"Medicine","cited_by":64,"is_retracted":false,"has_abstract":true,"ca_institutions":"Canadian Blood Services","funders":"National Heart, Lung, and Blood Institute; National Institutes of Health","keywords":"Nonsense mutation; Coding region; Genetics; Stop codon; Nonsense; Biology; Genotype; Phenotype; Genotype-phenotype distinction; Gene; Mutation; Nonsense-mediated decay; Molecular biology; Nucleotide; Point mutation; RNA splicing; Missense mutation; RNA","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":[0.0002819257,0.001211839,0.0004080453,0.001237448,0.001243849,0.0004915452,0.0003377543,0.001318581,0.002936393],"category_scores_gemma":[0.001036551,0.0003819459,0.0004191835,0.0005337394,0.000829607,0.0003039229,0.0005663928,0.0007368157,0.0004985596],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002103938,"about_ca_system_score_gemma":0.0002546461,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003203828,"about_ca_topic_score_gemma":0.002935369,"domain_scores_codex":[0.9996566,0.00003761546,0.00004402082,0.0001195656,0.00006840502,0.00007386612],"domain_scores_gemma":[0.9993879,0.0001280774,0.00014415,0.00002863386,0.00004729447,0.0002639897],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.003813242,0.001395186,0.5008833,0.0001674088,0.0002832516,0.2255754,0.0058118,0.0004164828,0.2244284,0.002670391,0.002896514,0.03165853],"study_design_scores_gemma":[0.0004435678,0.003061885,0.5316147,0.00009319303,0.0002135593,0.4435857,0.001058227,0.0008473811,0.01109143,0.001069948,0.006806912,0.0001135509],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979877,0.0001531244,0.0004969133,0.00007389163,0.00002993885,0.00002725345,0.0001715663,0.00002261598,0.001036883],"genre_scores_gemma":[0.9980292,0.0001133864,0.0005853093,0.0001467676,0.00005933077,0.00002306247,0.0001603001,0.00002056797,0.0008620504],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003203828,"threshold_uncertainty_score":0.009823203,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02822594832054733,"score_gpt":0.3021618167156135,"score_spread":0.2739358683950662,"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."}}