{"id":"W1804146826","doi":"10.1002/ajmg.a.31322","title":"Frontometaphyseal dysplasia: Mutations in <i>FLNA</i> and phenotypic diversity","year":2006,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"interferon and immune responses","field":"Immunology and Microbiology","cited_by":77,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; McGill University; Montreal Children's Hospital","funders":"","keywords":"FLNA; Filamin; Missense mutation; Genetics; Biology; Phenotype; Proband; Dysplasia; Mutation; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004217243,0.00009368867,0.0002996545,0.000153071,0.0000852032,0.000008366431,0.0002228465,0.00008288002,0.0002921678],"category_scores_gemma":[0.0001041841,0.00007787328,0.00006285209,0.0001458279,0.0007009704,0.00003356297,0.0001382782,0.0003637899,0.00002693869],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002394185,"about_ca_system_score_gemma":0.0001111657,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002249126,"about_ca_topic_score_gemma":0.0001142023,"domain_scores_codex":[0.9989327,0.0002545408,0.0003671632,0.00009909989,0.0001338587,0.0002125993],"domain_scores_gemma":[0.9994232,0.0001909224,0.0001936974,0.00008040077,0.00006044164,0.00005133697],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003433074,0.002015919,0.4604892,0.00004437623,0.001022215,0.0006507813,0.005635092,0.00010254,0.06015465,0.00189461,0.03326455,0.431293],"study_design_scores_gemma":[0.007167136,0.003612404,0.8537111,0.000219459,0.0002350085,0.001781183,0.004090142,0.00006127382,0.01208864,0.0007416683,0.1158239,0.0004681141],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9925923,0.005430306,0.0003662938,0.0009153514,0.000348843,0.00003835261,0.000005014285,0.000004873043,0.0002986382],"genre_scores_gemma":[0.9986882,0.0006099389,0.0001766169,0.0002404333,0.00005004421,8.749135e-7,0.000004603299,0.000005738669,0.0002235149],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4308249,"threshold_uncertainty_score":0.3199032,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009162403228442202,"score_gpt":0.2521854769628814,"score_spread":0.2430230737344392,"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."}}