{"id":"W4390261433","doi":"10.1016/j.jns.2023.121931","title":"EPRS1-related disorder: A genotype-phenotype correlation study reveals distinct neurological disease types and wide phenotypic variability","year":2023,"lang":"en","type":"article","venue":"Journal of the Neurological Sciences","topic":"RNA and protein synthesis mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre","funders":"","keywords":"Phenotype; Genotype; Correlation; Biology; Disease; Genotype-phenotype distinction; Genetics; Medicine; Gene; Pathology","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004520057,0.0009417891,0.0007018345,0.001115796,0.0005145496,0.0004014749,0.0003333786,0.0004830454,0.003120854],"category_scores_gemma":[0.001263288,0.0002363739,0.0003835654,0.0007117216,0.0006276665,0.0002331254,0.0006646864,0.0005712068,0.0004558466],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001344664,"about_ca_system_score_gemma":0.000173111,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000521152,"about_ca_topic_score_gemma":0.0004786135,"domain_scores_codex":[0.9995096,0.0001118455,0.00007097553,0.0001976914,0.00006763102,0.00004222203],"domain_scores_gemma":[0.9988841,0.0005268876,0.0002884759,0.0001095234,0.00006370454,0.0001272354],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.005821433,0.001230989,0.5904326,0.0001359219,0.0007091921,0.0316715,0.001863368,0.0006612641,0.3427807,0.001215162,0.0009923712,0.02248541],"study_design_scores_gemma":[0.0001047364,0.000965161,0.9468142,0.00002171651,0.0002195077,0.04124606,0.000330717,0.0008756234,0.008059927,0.0004030521,0.0009226737,0.0000366481],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989347,0.00007738567,0.0003282335,0.00003490381,0.000003693522,0.000009201452,0.0002509722,0.00001115697,0.0003497592],"genre_scores_gemma":[0.9989267,0.00006969953,0.000310404,0.0000313317,0.00001138207,0.00001024446,0.0003716063,0.00002121884,0.0002473166],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003120854,"threshold_uncertainty_score":0.01044023,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01591733371830861,"score_gpt":0.2527145818792511,"score_spread":0.2367972481609424,"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."}}