{"id":"W6939455585","doi":"10.60692/v72ey-v9z31","title":"Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder","year":2023,"lang":"en","type":"article","venue":"Greater South Information System","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill University Health Centre; Montreal Children's Hospital","funders":"Medical Research Council","keywords":"Zebrafish; Phenotype; Mutation; Model organism; In vitro; Neurodegeneration; mTORC1; Mitochondrion","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":[0.0002083329,0.001012464,0.0003043013,0.001343072,0.0004036025,0.0002915893,0.0002803668,0.0005168986,0.001991323],"category_scores_gemma":[0.0006999413,0.0002080306,0.0001767167,0.0005158025,0.0005254947,0.0001959525,0.0005759365,0.0002874147,0.000271696],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002914706,"about_ca_system_score_gemma":0.0003713049,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002811925,"about_ca_topic_score_gemma":0.002603422,"domain_scores_codex":[0.9997966,0.00002100477,0.0000333984,0.00007867695,0.00004568086,0.00002475019],"domain_scores_gemma":[0.9997739,0.00005172295,0.00005306862,0.0000171472,0.00003261211,0.00007157883],"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":[0.0008886593,0.0002500298,0.1909639,0.0002769151,0.0001334994,0.344096,0.001281703,0.0008310478,0.4387577,0.001058504,0.001731889,0.01973011],"study_design_scores_gemma":[0.00008018443,0.0006531395,0.3825203,0.00005098179,0.0001544344,0.5794287,0.0004318538,0.001759412,0.03165994,0.0004432846,0.002758687,0.00005898648],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964225,0.0002887836,0.001117637,0.00009802905,0.000008022173,0.00004173719,0.0005877118,0.00004657785,0.001388969],"genre_scores_gemma":[0.9975376,0.0002040766,0.001178185,0.0000517448,0.00001058358,0.00001588284,0.000391063,0.00001463179,0.0005961953],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002811925,"threshold_uncertainty_score":0.006661654,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01801502575302386,"score_gpt":0.2285860507655749,"score_spread":0.2105710250125511,"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."}}