{"id":"W3196754071","doi":"10.14740/jmc3747","title":"M680I/M694V Heterozygous Mutation in Early Onset Familial Mediterranean Fever","year":2021,"lang":"en","type":"article","venue":"Journal of Medical Cases","topic":"Inflammasome and immune disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Familial Mediterranean fever; MEFV; Medicine; Abdominal pain; Disease; Mutation; Genetic disorder; Chest pain; Gene mutation; Immunology; Gene; Internal medicine; Genetics; Biology","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001829916,0.0008626764,0.0004555929,0.0008573001,0.0006882653,0.0002594878,0.0003433907,0.001463677,0.002438387],"category_scores_gemma":[0.0007082425,0.0002062094,0.000370379,0.0004213358,0.0005979791,0.0002452034,0.0003784854,0.0005157625,0.0005108024],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000238087,"about_ca_system_score_gemma":0.0001780819,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007260393,"about_ca_topic_score_gemma":0.0007602507,"domain_scores_codex":[0.9998104,0.00003373882,0.00001727645,0.00004435235,0.00003456906,0.00005970202],"domain_scores_gemma":[0.999736,0.00007653976,0.00007885493,0.00001077304,0.00001967859,0.00007811438],"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":[0.0001911719,0.0001137753,0.01218275,0.00004273346,0.00001830624,0.9641604,0.0002913603,0.0001043272,0.01849353,0.0002994817,0.0005505727,0.003551525],"study_design_scores_gemma":[0.00004226866,0.0002411971,0.03213673,0.00002629501,0.00003861193,0.9615346,0.0001689847,0.0003281795,0.003737036,0.0003016235,0.001426871,0.00001743427],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933264,0.001084049,0.001158744,0.0003864348,0.000119328,0.00004985725,0.0001217771,0.00007274513,0.003680593],"genre_scores_gemma":[0.9985998,0.000173885,0.0003186778,0.00009098426,0.00007283336,0.000005267871,0.00003197099,0.000007790162,0.0006986424],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002438387,"threshold_uncertainty_score":0.008157253,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01428839666644288,"score_gpt":0.2784132357388732,"score_spread":0.2641248390724303,"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."}}