{"id":"W4252257747","doi":"10.1002/humu.22756","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":2015,"lang":"en","type":"article","venue":"Human Mutation","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"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":"","keywords":"Biology; Short stature; Cataracts; Peripheral neuropathy; Regret; Mutation; Growth hormone deficiency; Genetics; Internal medicine; Endocrinology; Growth hormone; Hormone; Medicine; Diabetes mellitus; Gene","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":[0.0002449247,0.0007607706,0.0004188172,0.001218569,0.0004468952,0.000552266,0.0004087916,0.00144882,0.003670132],"category_scores_gemma":[0.002022567,0.0002663643,0.0003673193,0.0006609002,0.0007722327,0.0003529208,0.0002654036,0.0006759563,0.0008112708],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003315646,"about_ca_system_score_gemma":0.0002240422,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00178008,"about_ca_topic_score_gemma":0.001581453,"domain_scores_codex":[0.999727,0.00003016396,0.000074342,0.00008579281,0.00005495171,0.00002781208],"domain_scores_gemma":[0.9992654,0.0003506003,0.0001801027,0.00003878459,0.00006823462,0.00009682735],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.002399329,0.0002291217,0.1386118,0.0003012287,0.0003238232,0.6966101,0.002853771,0.0006251918,0.07139882,0.002530827,0.03553546,0.04858059],"study_design_scores_gemma":[0.0002040901,0.0006391641,0.1701165,0.0001533417,0.0002869873,0.768826,0.0007764895,0.001257892,0.03250325,0.0008880793,0.02423342,0.0001148597],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9820691,0.002137763,0.001884976,0.002942309,0.004349721,0.00002812054,0.0008090491,0.0002640525,0.005515013],"genre_scores_gemma":[0.9929608,0.0007113617,0.00110142,0.0003967946,0.0007366242,0.000007709381,0.0002515756,0.00007797286,0.003755721],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003670132,"threshold_uncertainty_score":0.01227778,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01313825608628361,"score_gpt":0.2250660846648658,"score_spread":0.2119278285785822,"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."}}