{"id":"W1968980213","doi":"10.1007/s10048-014-0411-3","title":"AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset","year":2014,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":24,"is_retracted":false,"has_abstract":false,"ca_institutions":"BC Children's Hospital; B.C. Women's Hospital & Health Centre; Child and Family Research Institute; University of British Columbia","funders":"Canadian Institutes of Health Research","keywords":"Microcephaly; Atrophy; Pathology; Myelin; Medicine; Neuroscience; White matter; Disease; Differential diagnosis; Exome sequencing; Mutation; Biology; Pediatrics; Magnetic resonance imaging; Genetics; Central nervous system","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.00008267268,0.0003328291,0.0002342807,0.00008126211,0.0002794036,0.00009836337,0.0005835635,0.00007216448,0.0001488299],"category_scores_gemma":[0.003265932,0.0002653388,0.00008218714,0.0004657506,0.0004949625,0.0001114218,0.0002202251,0.0004199934,0.0003925778],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008447698,"about_ca_system_score_gemma":0.0001057646,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000005527288,"about_ca_topic_score_gemma":0.000006362301,"domain_scores_codex":[0.9965279,0.000739812,0.0003102152,0.0009953935,0.0007560895,0.0006706526],"domain_scores_gemma":[0.9979208,0.0006261424,0.00009099768,0.0007120202,0.00005703569,0.0005929691],"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":[0.003304847,0.005466461,0.2880921,0.0001912081,0.00002625095,0.004799719,0.000686732,0.07110699,0.5875019,0.02149494,0.009868668,0.007460182],"study_design_scores_gemma":[0.004377506,0.01095657,0.4719387,0.00003923277,0.0002576499,0.0005192907,0.00003902694,0.102505,0.3514945,0.005414242,0.05013717,0.002321108],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9935123,0.00002322464,0.0004825343,0.0009238474,0.0002708035,0.0004791312,0.00005038525,0.0001977436,0.004060035],"genre_scores_gemma":[0.989689,0.00005065589,0.0001160932,0.009820448,0.00007340746,0.00004429811,0.000005439128,0.00005827962,0.0001424115],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2360073,"threshold_uncertainty_score":0.9999799,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01994509562718577,"score_gpt":0.2577579300266643,"score_spread":0.2378128343994785,"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."}}