{"id":"W7071911103","doi":"","title":"A Unique Complex Variation Profile in a Patient with Familial Mediterranean Fever (FMF): Triple Homozygous E148Q-P369S-R408Q – “Case Report”","year":2025,"lang":"en","type":"article","venue":"DOAJ (DOAJ: Directory of Open Access Journals)","topic":"Body Image and Dysmorphia Studies","field":"Psychology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Child, Adolescent and Family Mental Health","funders":"","keywords":"Familial Mediterranean fever; MEFV; Disease; University hospital; Infectious disease (medical specialty); El Niño; Pediatric Infectious Disease","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":[0.0002346525,0.001152189,0.0008630776,0.001952969,0.0009104442,0.0007080373,0.0007216962,0.002077427,0.001952453],"category_scores_gemma":[0.001623902,0.0004946197,0.0006565981,0.0009121026,0.0007945479,0.0006963942,0.0007662544,0.00110148,0.0004022929],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006184935,"about_ca_system_score_gemma":0.0002946907,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00217782,"about_ca_topic_score_gemma":0.001622469,"domain_scores_codex":[0.9995705,0.00004930831,0.00003832956,0.0001491078,0.00007766479,0.0001149251],"domain_scores_gemma":[0.9992275,0.0002584031,0.0001325139,0.00004109927,0.00007324984,0.0002672248],"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":[0.00008610017,0.00003567645,0.01698618,0.00002907473,0.00001690211,0.9755499,0.0002673321,0.00008853388,0.004720115,0.0001365608,0.0004931167,0.001590518],"study_design_scores_gemma":[0.00002524325,0.00008712173,0.02108155,0.00001426464,0.00002151006,0.9770294,0.0001547318,0.0003088566,0.0006048137,0.0001791412,0.0004788324,0.00001463251],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9923033,0.001587845,0.001266308,0.0009784774,0.00009295689,0.00007747944,0.00023053,0.00007743077,0.00338575],"genre_scores_gemma":[0.998353,0.0002784805,0.000543028,0.0002179784,0.0001178013,0.00001114335,0.00008882523,0.000017251,0.0003724541],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00217782,"threshold_uncertainty_score":0.006531537,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.2692933049171439,"score_gpt":0.5444147273161742,"score_spread":0.2751214223990304,"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."}}