{"id":"W4405262709","doi":"10.1080/13816810.2024.2438652","title":"A novel <i>ZMIZ1</i> variant associated with NEDDFSA and new ocular features: case report and review of literature","year":2024,"lang":"en","type":"review","venue":"Ophthalmic Genetics","topic":"Ocular Disorders and Treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Medicine; Disease; Bioinformatics; Genetics; Ophthalmology; Biology; Pathology","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001847525,0.0005965573,0.001216549,0.00007151037,0.00005777174,0.0000738594,0.0001369414,0.0005496463,0.000004704665],"category_scores_gemma":[0.00009231115,0.0004174867,0.0002862108,0.0002917643,0.00008578283,0.000002997013,0.0002113798,0.0002697508,0.000001138601],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001977546,"about_ca_system_score_gemma":0.0004307634,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000292136,"about_ca_topic_score_gemma":0.00002005937,"domain_scores_codex":[0.9981189,0.00007938786,0.0005323694,0.0008158634,0.0001935252,0.0002599292],"domain_scores_gemma":[0.9985926,0.00001644891,0.0004081695,0.0006841366,0.000116896,0.0001817318],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00004494615,0.0006918514,0.00006983238,0.2785633,0.01012889,0.23779,0.0001906582,0.000001838896,0.0002651745,0.00006134836,0.01102085,0.4611714],"study_design_scores_gemma":[0.0005536936,0.0004173332,0.000006319044,0.08198967,0.005534761,0.3704585,0.000008341794,0.000001391832,0.00002187378,0.00002149199,0.5404474,0.0005392424],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0003237401,0.9979768,0.00003985249,0.00002773656,0.0001003124,0.0008669148,0.0003612911,0.000008426446,0.0002949079],"genre_scores_gemma":[0.0001027552,0.9946031,0.001413384,0.00006656434,0.00008824102,0.00003574767,0.001608443,0.0001000596,0.001981702],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.5294265,"threshold_uncertainty_score":0.9998277,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01921581503276175,"score_gpt":0.2978195561036512,"score_spread":0.2786037410708895,"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."}}