{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001386772,0.0009249758,0.0002749966,0.0007062114,0.0004120902,0.0003592241,0.0001897672,0.0006497224,0.001326606],"category_scores_gemma":[0.0006014641,0.0002291968,0.0003041948,0.0003465989,0.0004925149,0.0001630573,0.0003075498,0.0003256866,0.0002617036],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002007161,"about_ca_system_score_gemma":0.0001454792,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00118934,"about_ca_topic_score_gemma":0.0016162,"domain_scores_codex":[0.999838,0.00002092187,0.00002833371,0.00005233999,0.00003700946,0.00002333158],"domain_scores_gemma":[0.999755,0.00006298481,0.00008492418,0.00001367331,0.00001819658,0.00006520181],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001443057,0.0002197174,0.3883418,0.000171485,0.0002984162,0.205401,0.001969165,0.0005938003,0.3824531,0.0004387245,0.001108826,0.01756088],"study_design_scores_gemma":[0.0001590698,0.0007476597,0.4917019,0.00003683617,0.0002182398,0.4529596,0.0005007696,0.00140858,0.04997649,0.0002431578,0.002002779,0.00004501922],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989384,0.0001266544,0.0004051961,0.0000507769,0.00000770316,0.000007623769,0.00007382713,0.00003606735,0.0003537167],"genre_scores_gemma":[0.9994183,0.00004678624,0.0002589284,0.00003254974,0.000009755699,0.000003142651,0.00006470938,0.000006490416,0.0001594515],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001326606,"threshold_uncertainty_score":0.004437983,"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."}}