{"id":"W4417087455","doi":"10.1007/s12098-025-05902-2","title":"Megalencephalic Leukoencephalopathy Type 2B","year":2025,"lang":"en","type":"letter","venue":"The Indian Journal of Pediatrics","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"ASTER","funders":"","keywords":"Macrocephaly; Leukoencephalopathy; Genetic testing; Genetic disorder; Genetic diagnosis","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":[0.0005268967,0.001174254,0.001224915,0.001026658,0.001807297,0.001440724,0.001187554,0.008464864,0.004743241],"category_scores_gemma":[0.003464421,0.0004214139,0.0007711374,0.0008967022,0.001341989,0.001082553,0.0005426263,0.006319992,0.001992768],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001871627,"about_ca_system_score_gemma":0.001020271,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001892127,"about_ca_topic_score_gemma":0.002717591,"domain_scores_codex":[0.9993636,0.0001344406,0.00007453431,0.00009500826,0.0001448982,0.0001874877],"domain_scores_gemma":[0.9987088,0.0006225539,0.0001671184,0.00008395818,0.0000935839,0.0003239321],"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":[0.0001771962,0.00005543923,0.003781943,0.0001223956,0.00002797799,0.9361928,0.000129984,0.0001113935,0.001072069,0.004589434,0.04716383,0.006575459],"study_design_scores_gemma":[0.0001978243,0.0001297402,0.008293236,0.000216221,0.0001065887,0.900455,0.0003442036,0.001217047,0.00174834,0.00591199,0.08133204,0.00004771505],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.1641587,0.0310287,0.004040877,0.6033317,0.05812141,0.0002827508,0.00108902,0.0007510259,0.1371958],"genre_scores_gemma":[0.7083549,0.0165289,0.003287704,0.1539639,0.0667892,0.0002805017,0.0004010046,0.0002411468,0.05015279],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.008464864,"threshold_uncertainty_score":0.01586777,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00885301521205481,"score_gpt":0.242781165660137,"score_spread":0.2339281504480822,"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."}}