{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001366814,0.0009294163,0.0003881876,0.0005918581,0.000514276,0.0004152315,0.0002965551,0.001028528,0.00162488],"category_scores_gemma":[0.0004748509,0.0002197023,0.000409893,0.0003085542,0.000525267,0.0002348981,0.0003937488,0.000581618,0.0005858668],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003044225,"about_ca_system_score_gemma":0.0001709968,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007496846,"about_ca_topic_score_gemma":0.0008366749,"domain_scores_codex":[0.9998127,0.00001717437,0.00001902339,0.00006693335,0.00003526561,0.00004892192],"domain_scores_gemma":[0.9997441,0.00006136097,0.00009549882,0.00001762534,0.00001546982,0.00006597942],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.000177343,0.00008055852,0.03659795,0.00006914352,0.00006194522,0.8136585,0.0008343837,0.0003469793,0.1345742,0.001136727,0.001016985,0.01144525],"study_design_scores_gemma":[0.00001682851,0.0002506682,0.04724558,0.00002118928,0.00006440307,0.9218614,0.0002456888,0.0004532992,0.02560048,0.0002153154,0.004003836,0.00002145591],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9939272,0.0004069052,0.001386394,0.0003224063,0.00006020974,0.00002231243,0.0002058827,0.0001355222,0.003533137],"genre_scores_gemma":[0.997192,0.0002292084,0.0007647153,0.0001401751,0.00007508171,0.000005468578,0.00009087625,0.00003063228,0.001471934],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00162488,"threshold_uncertainty_score":0.005435765,"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."}}