{"id":"W4385791066","doi":"10.1111/cge.14416","title":"Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic <i>DHX16</i> variant","year":2023,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"Oulun Yliopiston Tukisäätiö; Oulun Yliopisto; Academy of Finland","keywords":"Cockayne syndrome; Mitochondrial DNA; Mitochondrial encephalomyopathy; Sensorineural hearing loss; Phenotype; Atrophy; Mitochondrial disease; Biology; Genetics; Hearing loss; Skeletal muscle; Neuromuscular disease; Mitochondrial Encephalomyopathies; Retinopathy; Muscle atrophy; Gene; Medicine; Mitochondrial myopathy; DNA repair; Disease; Pathology; Diabetes mellitus; Endocrinology; Audiology","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0006301051,0.0003169008,0.0004165941,0.00007887316,0.0001710955,0.00005781958,0.0002174371,0.0005902152,0.00003396133],"category_scores_gemma":[0.001322533,0.0002858592,0.0001812618,0.0003559899,0.0003548307,0.00000552001,0.0002628169,0.0003156905,0.00004741056],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001303823,"about_ca_system_score_gemma":0.0001959622,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000005281594,"about_ca_topic_score_gemma":0.00005521297,"domain_scores_codex":[0.9972519,0.000342721,0.000719205,0.0009192728,0.0002584684,0.0005084001],"domain_scores_gemma":[0.9984368,0.000215789,0.0002632901,0.0006310518,0.0001682889,0.0002848014],"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":[0.001111177,0.000447823,0.04992997,0.00003084719,0.0001979136,0.0003707002,0.0001160611,0.0002304635,0.9376246,0.00007711655,0.007887616,0.001975752],"study_design_scores_gemma":[0.03076812,0.03095248,0.6776474,0.0004524395,0.001691378,0.004156675,0.0005107912,0.006951286,0.05084627,0.001238343,0.1894609,0.005323881],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9921348,0.0002466982,0.004074319,0.0001447375,0.0024357,0.0004729638,0.0002215459,0.00008928566,0.0001799226],"genre_scores_gemma":[0.9893182,0.001103828,0.005318686,0.0007577688,0.001474292,0.00007527835,0.001036245,0.0000849093,0.0008307938],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8867783,"threshold_uncertainty_score":0.9999593,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02345478189602611,"score_gpt":0.2820804709142798,"score_spread":0.2586256890182537,"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."}}