{"id":"W1998364981","doi":"10.1002/humu.22629","title":"Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase<i>IARS2</i>in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome","year":2014,"lang":"en","type":"article","venue":"Human Mutation","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":78,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal; McGill University; Montreal Children's Hospital; McGill University and Génome Québec Innovation Centre","funders":"Canadian Institutes of Health Research; Genome Canada","keywords":"Biology; Missense mutation; Short stature; Genetics; Exome sequencing; Cataracts; Compound heterozygosity; Mutation; Mitochondrial disease; Sensorineural hearing loss; Hearing loss; Mitochondrial DNA; Endocrinology; Gene; Medicine","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":[],"consensus_categories":[],"category_scores_codex":[0.0001440298,0.0002482834,0.0002101741,0.00008653004,0.0001713156,0.00008061285,0.0001211113,0.000112419,0.00001201529],"category_scores_gemma":[0.00005327538,0.00015388,0.0000240409,0.0001767801,0.0001489153,0.00004099769,0.00002193804,0.0002075031,0.000002536677],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001918328,"about_ca_system_score_gemma":0.00004509382,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008823622,"about_ca_topic_score_gemma":0.0007666397,"domain_scores_codex":[0.9983663,0.0003055271,0.0002640852,0.0005074363,0.0002686689,0.0002879885],"domain_scores_gemma":[0.9994345,0.00002999114,0.0001206034,0.0002461152,0.0001064228,0.00006240542],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.08842523,0.004797724,0.4308754,0.0005426866,0.0002791288,0.003195908,0.01485769,0.01500429,0.4293501,0.00436228,0.001355326,0.006954242],"study_design_scores_gemma":[0.0139164,0.02152929,0.9551703,0.00009351651,0.0001784542,0.001425556,0.001050047,0.001291136,0.003428303,0.00009922694,0.0006990136,0.001118707],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973095,0.00002299941,0.001762136,0.00005850675,0.0001053558,0.0005620083,0.00002042453,0.00001690414,0.0001421787],"genre_scores_gemma":[0.9982588,0.000007824423,0.0006401713,0.0002421776,0.0001141704,0.00004699671,0.0006200148,0.00003738196,0.00003249392],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.524295,"threshold_uncertainty_score":0.6275042,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006910945365035213,"score_gpt":0.2086495682892496,"score_spread":0.2017386229242144,"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."}}