{"id":"W4413117644","doi":"10.1177/22143602251369227","title":"Congenital-onset MLASA2 from a novel <i>YARS2</i> variant: A literature review","year":2025,"lang":"en","type":"article","venue":"Journal of Neuromuscular Diseases","topic":"RNA and protein synthesis mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"","keywords":"Medicine; Pediatrics","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0001707482,0.0002136601,0.0003617762,0.00008156962,0.00006883455,0.00007401317,0.0003974784,0.0001134656,0.00004818782],"category_scores_gemma":[0.0006236766,0.0001731895,0.000513765,0.0002060412,0.0000401084,0.00001386653,0.0001009245,0.0001490915,0.000004924168],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000871565,"about_ca_system_score_gemma":0.0001858441,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002454526,"about_ca_topic_score_gemma":0.00000143659,"domain_scores_codex":[0.9986686,0.0001806307,0.0004452072,0.0002709841,0.0002512563,0.0001832837],"domain_scores_gemma":[0.9988255,0.00004916326,0.0002715533,0.000448128,0.0002444279,0.0001612251],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0004293481,0.0005034753,0.0006052936,0.0006288257,0.0008003316,0.0007091108,0.00001708943,0.000009513312,0.9618948,0.0001047207,0.02720116,0.007096336],"study_design_scores_gemma":[0.003603857,0.001241961,0.01747599,0.01422845,0.003342832,0.001515251,0.00004229482,0.00002285849,0.222573,0.002456639,0.7324037,0.001093166],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"review","genre_gemma":"empirical","genre_scores_codex":[0.3240259,0.6640203,0.00718665,0.002152876,0.001005716,0.0004912767,0.0006275596,0.00001698507,0.000472764],"genre_scores_gemma":[0.8599179,0.1224718,0.002225947,0.01361187,0.0007794307,0.00003461927,0.0001933122,0.00006107149,0.0007040216],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.7393218,"threshold_uncertainty_score":0.7062463,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006436774875036598,"score_gpt":0.2396820437038431,"score_spread":0.2332452688288064,"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."}}