{"id":"W3130509169","doi":"10.1038/s41467-021-21279-0","title":"POLRMT mutations impair mitochondrial transcription causing neurological disease","year":2021,"lang":"en","type":"article","venue":"Nature Communications","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":59,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University; McMaster Children's Hospital","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; Eesti Teadusagentuur; National Eye Institute; Engineering and Physical Sciences Research Council; National Institutes of Health; National Institute of Mental Health; National Heart, Lung, and Blood Institute; Vetenskapsrådet; Knut och Alice Wallenbergs Stiftelse; Lily Foundation; Children's Miracle Network Hospitals; Ministerstvo Zdravotnictví Ceské Republiky; Swedish Cancer Foundation; Ministerstvo Školství, Mládeže a Tělovýchovy; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; National Institute for Health and Care Research; National Human Genome Research Institute; Grantová Agentura, Univerzita Karlova; Wellcome Trust; Broad Institute; Univerzita Karlova v Praze; McMaster University; Medical Research Council","keywords":"Mitochondrial DNA; Biology; Genetics; Hypotonia; Mitochondrial disease; Transcription (linguistics); RNA polymerase II; Gene; Phenotype; Human mitochondrial genetics; Mitochondrion; Polymerase; Promoter; Gene expression","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":[0.0001049106,0.0006767829,0.0002469848,0.0002774764,0.0001891468,0.0003356863,0.0001599644,0.0004316615,0.001731658],"category_scores_gemma":[0.0004364648,0.0001182295,0.0001797522,0.0001856497,0.0003316901,0.0001413753,0.0002939493,0.0002863188,0.0004380876],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001798535,"about_ca_system_score_gemma":0.0001043665,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004577344,"about_ca_topic_score_gemma":0.0006343845,"domain_scores_codex":[0.9998571,0.0000214859,0.0000219487,0.00005020644,0.00003446363,0.00001478715],"domain_scores_gemma":[0.999842,0.00005115017,0.00005840146,0.00001317489,0.00001072618,0.00002446388],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0002885875,0.000032058,0.0175021,0.0001016317,0.00005423465,0.0132794,0.0002479029,0.0004364535,0.9575922,0.0003872486,0.0003590871,0.009719032],"study_design_scores_gemma":[0.0001776742,0.001062345,0.1983408,0.0001344944,0.0002843437,0.2272071,0.000421933,0.00378553,0.5511099,0.001017315,0.01639911,0.00005958036],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9954373,0.0009710142,0.001546818,0.0000861968,0.00001859197,0.00001050224,0.000328737,0.0001235581,0.001477218],"genre_scores_gemma":[0.9977387,0.0004198153,0.000829058,0.00004984505,0.00001594261,0.000005888091,0.0003290963,0.00002755826,0.0005840707],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001731658,"threshold_uncertainty_score":0.005792975,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02040028941761603,"score_gpt":0.2933966242552295,"score_spread":0.2729963348376135,"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."}}