{"id":"W4417458373","doi":"10.1212/nxg.0000000000200334","title":"<i>DEGS1</i> -Related Hypomyelinating Leukodystrophy","year":2025,"lang":"en","type":"article","venue":"Neurology Genetics","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster Children's Hospital; McMaster University; McMaster University Medical Centre","funders":"","keywords":"Leukodystrophy; Natural history; Phenotype; Stroke (engine); Clinical phenotype","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":[0.00006794337,0.0001351527,0.0001103911,0.00006483993,0.00009464768,0.00001587039,0.0001840525,0.0002158025,0.00002824071],"category_scores_gemma":[0.00008404295,0.0001437545,0.00008142026,0.0001426956,0.0001111708,0.000001229874,0.0001842251,0.0001113402,0.00002617525],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003696104,"about_ca_system_score_gemma":0.0000885081,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001512949,"about_ca_topic_score_gemma":0.000003439586,"domain_scores_codex":[0.9990446,0.00008583216,0.0002262289,0.0003430745,0.00007493877,0.0002253512],"domain_scores_gemma":[0.9994124,0.00001464853,0.00006010644,0.000363038,0.00007612821,0.00007372538],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0003449451,0.0001956952,0.1056,0.00003579386,0.0001339431,0.00003239287,0.00002571666,0.006797565,0.8253772,0.002766966,0.02194968,0.03674003],"study_design_scores_gemma":[0.005575555,0.00136545,0.3253054,0.00001598082,0.0001886183,0.00008470121,0.00003527982,0.009898993,0.1345529,0.006077102,0.5160148,0.0008851722],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9813814,0.001349074,0.001057221,0.001269819,0.0004807805,0.000136639,0.000006559815,0.0000343607,0.0142841],"genre_scores_gemma":[0.9928043,0.0001262578,0.0003697488,0.004259549,0.00009529366,0.00001194984,0.00005241603,0.00001668548,0.002263818],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6908243,"threshold_uncertainty_score":0.5862138,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004711579153740887,"score_gpt":0.2357444140399275,"score_spread":0.2310328348861867,"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."}}