{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001458319,0.0002449086,0.0002044715,0.00008781831,0.0001287593,0.00008155827,0.0001197483,0.0001121281,0.000008099111],"category_scores_gemma":[0.00005517129,0.0001516029,0.00002144707,0.0001989082,0.0001483077,0.00004864243,0.0000242963,0.0002051125,0.00000274687],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000288318,"about_ca_system_score_gemma":0.00008993546,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001183942,"about_ca_topic_score_gemma":0.000820855,"domain_scores_codex":[0.9983928,0.0002629026,0.0002620644,0.0004854721,0.0003127442,0.000283971],"domain_scores_gemma":[0.9993916,0.00001961334,0.0001165778,0.0002321154,0.0001523403,0.00008772666],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.1444886,0.006190903,0.5334753,0.0004422081,0.0003426213,0.008853229,0.02945071,0.0206181,0.2460866,0.002614142,0.003254429,0.004183121],"study_design_scores_gemma":[0.02807581,0.03781409,0.9174625,0.000132743,0.0002910899,0.0033672,0.004328883,0.001204984,0.004356095,0.0001595343,0.001003837,0.001803184],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981661,0.00004353797,0.0008102311,0.00006200874,0.0001231831,0.0006120027,0.00002713035,0.00001697061,0.0001388015],"genre_scores_gemma":[0.9982207,0.000007398523,0.000654079,0.000195608,0.000104586,0.00004815405,0.0006943298,0.00003645491,0.00003864282],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3839872,"threshold_uncertainty_score":0.6182186,"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."}}