{"id":"W4379598115","doi":"10.1177/2329048x231176673","title":"A Recurrent <i>De Novo</i> Variant in <i>EIF2AK2</i> Causes a Hypomyelinating Leukodystrophy","year":2023,"lang":"en","type":"article","venue":"Child Neurology Open","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill University Health Centre","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research; Canada First Research Excellence Fund; Compute Canada; Children's Mercy Hospital; McGill University","keywords":"Leukodystrophy; Leukoencephalopathy; Hypotonia; Spasticity; Ataxia; Medicine; Nystagmus; Neurology; Pediatrics; Genetics; Pathology; Biology; Disease; Neuroscience; Physical medicine and rehabilitation; Audiology","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":[0.0002451622,0.0001451522,0.0001620819,0.00008706391,0.0001044782,0.00004951896,0.0004272953,0.0001275997,0.0000341217],"category_scores_gemma":[0.000207768,0.0001466192,0.00005972745,0.0002619162,0.00006382007,0.000007541846,0.0006601699,0.0001567419,0.00005903229],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007696716,"about_ca_system_score_gemma":0.0001008373,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002335519,"about_ca_topic_score_gemma":0.0001045077,"domain_scores_codex":[0.9987364,0.0001612039,0.0002241083,0.0004495703,0.00007821184,0.0003504697],"domain_scores_gemma":[0.9994231,0.00002448012,0.00006883207,0.0003386999,0.00002687871,0.0001179689],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.007962865,0.002110613,0.309324,0.0002437323,0.0003073834,0.006756015,0.0009047239,0.01427992,0.4877706,0.007743986,0.1070858,0.0555104],"study_design_scores_gemma":[0.01155125,0.002097273,0.5898602,0.00009151561,0.00006807473,0.001548987,0.00008600291,0.004552771,0.02171001,0.001822067,0.3652624,0.001349415],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9869143,0.0001516345,0.00003268569,0.006385636,0.0002259629,0.0003839072,0.00002572617,0.00003515576,0.005845008],"genre_scores_gemma":[0.9912763,0.0001155021,0.00006934854,0.007755766,0.0001750534,0.0000808063,0.0001392696,0.00002678154,0.0003612038],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4660605,"threshold_uncertainty_score":0.5978956,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01609633916102316,"score_gpt":0.275764721567707,"score_spread":0.2596683824066839,"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."}}