{"id":"W2993403703","doi":"10.1002/acn3.50960","title":"<i>RARS1</i>‐related hypomyelinating leukodystrophy: Expanding the spectrum","year":2019,"lang":"en","type":"article","venue":"Annals of Clinical and Translational Neurology","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":30,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill Genome Centre; McGill University Health Centre","funders":"Canadian Institutes of Health Research; Ministero della Salute; Fondazione Telethon; National Institute for Health and Care Research","keywords":"Medicine; Leukodystrophy; Pathology; Disease","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0003488601,0.00008667444,0.0001721123,0.00002300053,0.00005047276,0.000007133725,0.00009631705,0.0001290331,0.0000806066],"category_scores_gemma":[0.00008985481,0.00006346274,0.0001534217,0.00005401799,0.0001981205,0.000005714232,0.00003765098,0.0001282672,0.00001038618],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":4.467272e-8,"about_ca_system_score_gemma":0.00004177477,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003334558,"about_ca_topic_score_gemma":0.000002523242,"domain_scores_codex":[0.9989322,0.0001282122,0.0004543259,0.0002427847,0.0001086347,0.0001337872],"domain_scores_gemma":[0.999418,0.0001802013,0.0001296238,0.0001520482,0.00005045766,0.00006970158],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001015454,0.0001159247,0.9694364,0.00001977062,0.0001115882,0.000003719932,0.00002532357,0.0009931936,0.006320705,0.01139122,0.0003388939,0.01022781],"study_design_scores_gemma":[0.001196986,0.0004183023,0.9766065,0.000004338447,0.00001405327,0.00001395033,0.000005434347,0.001057555,0.001357704,0.01184578,0.00738019,0.00009915481],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9840192,0.0004390512,0.00007975601,0.01293299,0.0001708247,0.0001170094,0.00001154922,0.000005988567,0.002223682],"genre_scores_gemma":[0.9968094,0.0001868123,0.00004453547,0.002571272,0.0001433216,0.00000232762,0.00003608168,0.000008262033,0.0001980392],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0127902,"threshold_uncertainty_score":0.2587936,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04377452367847728,"score_gpt":0.3519644846590674,"score_spread":0.3081899609805901,"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."}}