{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002210865,0.001394463,0.0005462083,0.0007179597,0.0006180185,0.0003564468,0.0003576137,0.001175683,0.001475314],"category_scores_gemma":[0.0007948129,0.0003699122,0.0003107784,0.0004509335,0.0006790623,0.0003067094,0.000472275,0.000698692,0.0003186144],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002178938,"about_ca_system_score_gemma":0.0002405013,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007614354,"about_ca_topic_score_gemma":0.0008921488,"domain_scores_codex":[0.999791,0.00002150182,0.00003239703,0.00008228511,0.00002767912,0.00004525243],"domain_scores_gemma":[0.9995528,0.0001176906,0.0001300968,0.00002998861,0.00003039192,0.000139044],"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":[0.0003394148,0.0001821265,0.06667801,0.00009281253,0.00005737208,0.8755996,0.0008687556,0.000266053,0.05057861,0.0004066069,0.000311888,0.004618809],"study_design_scores_gemma":[0.00005010244,0.0006067882,0.07060177,0.00001807478,0.00006328579,0.9195849,0.0001805566,0.0004543633,0.007136102,0.0002372671,0.001045249,0.00002156308],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979575,0.0002208704,0.0005881648,0.0001259,0.00001067167,0.00001756943,0.00009645286,0.00002930119,0.0009535543],"genre_scores_gemma":[0.9985145,0.00011102,0.0005754725,0.00008330019,0.00003128951,0.00000779015,0.0000854812,0.000008444265,0.000582611],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001475314,"threshold_uncertainty_score":0.004935384,"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."}}