{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002982188,0.0007146305,0.0002996092,0.0004324505,0.0002392898,0.0003018501,0.0002822097,0.0003933822,0.001910481],"category_scores_gemma":[0.0004636781,0.0001159693,0.0002736285,0.0003437373,0.000269013,0.0002215234,0.000266164,0.0003138458,0.0003668554],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001405223,"about_ca_system_score_gemma":0.0001005334,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004473911,"about_ca_topic_score_gemma":0.0004315986,"domain_scores_codex":[0.9997997,0.0000366942,0.0000368256,0.00007362475,0.00002527703,0.00002795891],"domain_scores_gemma":[0.999711,0.00005019542,0.0001221199,0.00001619199,0.00003476159,0.00006561349],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.001396186,0.0001510064,0.7023189,0.0001486072,0.0001308303,0.01686157,0.0006067172,0.0003403464,0.2490402,0.0002760839,0.0004086987,0.02832071],"study_design_scores_gemma":[0.0001096174,0.001441375,0.8645452,0.00007289118,0.0001724161,0.1149708,0.0004131048,0.0006893276,0.01439951,0.0002503978,0.002913901,0.00002150351],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987518,0.0004286553,0.0002738254,0.00006702136,0.000002934802,0.000004907188,0.00005423271,0.00001174181,0.0004049433],"genre_scores_gemma":[0.9991257,0.0001642576,0.0003784075,0.00005711824,0.00001775712,0.00000347753,0.00009615645,0.000004376575,0.0001527558],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001910481,"threshold_uncertainty_score":0.006391168,"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."}}