{"id":"W7030716104","doi":"","title":"A novel <i>FGG </i>missense variant associated with fibrinogen storage disease in a large family from Quebec","year":2024,"lang":"en","type":"article","venue":"Archive ouverte UNIGE (University of Geneva)","topic":"Cephalopods and Marine Biology","field":"Agricultural and Biological Sciences","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"","keywords":"Disease; Fibrinogen; Mutation; Genetic variants; Population","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0002742431,0.001683718,0.0006617737,0.001895058,0.004891961,0.0009601864,0.001437531,0.001806755,0.00767097],"category_scores_gemma":[0.001732258,0.000298123,0.0008732999,0.002195103,0.001479477,0.0003820087,0.000695962,0.00137269,0.0005047844],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.004181612,"about_ca_system_score_gemma":0.00550468,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.7601849,"about_ca_topic_score_gemma":0.7048148,"domain_scores_codex":[0.9994909,0.00004292537,0.0000634785,0.0001660673,0.000103551,0.0001330931],"domain_scores_gemma":[0.9987667,0.000273612,0.0001623977,0.00003744414,0.0003143842,0.0004454672],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0004952289,0.0001996497,0.1681398,0.0001371684,0.0003090604,0.7781441,0.006032835,0.0006734319,0.02239439,0.00166629,0.007509936,0.01429821],"study_design_scores_gemma":[0.0001967452,0.0003397372,0.5945383,0.0003535683,0.0005106166,0.3780456,0.005171655,0.002665945,0.002259719,0.0007330796,0.01497649,0.000208621],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9851019,0.001151098,0.001358104,0.002277736,0.0002818234,0.0001194022,0.00265863,0.00007289179,0.006978317],"genre_scores_gemma":[0.9941217,0.0003326521,0.0006855979,0.0007115318,0.00009770798,0.00001953561,0.000437691,0.00003665979,0.003556896],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7601849,"threshold_uncertainty_score":0.4824548,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009156991487234095,"score_gpt":0.1665287604401655,"score_spread":0.1573717689529314,"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."}}