{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002266147,0.001165559,0.0002845022,0.0006675521,0.0005936872,0.0003348202,0.0003000022,0.0006332896,0.004098199],"category_scores_gemma":[0.0004529676,0.0001224454,0.000316878,0.0003846975,0.0004786863,0.0001476404,0.0003258823,0.0004905283,0.0005037515],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004443096,"about_ca_system_score_gemma":0.0002905484,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001138502,"about_ca_topic_score_gemma":0.001512439,"domain_scores_codex":[0.9998294,0.00001877216,0.00002675767,0.00005605699,0.00002802589,0.00004100607],"domain_scores_gemma":[0.9997852,0.00005266216,0.00007156435,0.00001476146,0.00002128099,0.00005455087],"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":[0.001791378,0.0003442881,0.2097793,0.0003609688,0.0002055571,0.3999695,0.001273619,0.001143378,0.350044,0.002246248,0.003192995,0.02964875],"study_design_scores_gemma":[0.0001124097,0.0005547309,0.2718262,0.0001186383,0.000210503,0.6642706,0.0004400481,0.0009775995,0.05051357,0.0008574663,0.01008789,0.0000302952],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9938756,0.0003971814,0.0009370309,0.0003305669,0.00003391865,0.00004829748,0.0005548093,0.00006850213,0.003754089],"genre_scores_gemma":[0.9973066,0.0001153181,0.0008202046,0.0001656454,0.00002375205,0.00001239979,0.0003949778,0.00001825633,0.001142866],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004098199,"threshold_uncertainty_score":0.01370984,"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."}}