{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0000647813,0.0001263971,0.0001084919,0.00004399701,0.0003277544,0.00003696662,0.0002851064,0.0003474255,0.00009712253],"category_scores_gemma":[0.0004804284,0.0001289012,0.0001500001,0.0001982977,0.0001332265,0.000007226151,0.0001562122,0.0005121398,0.00002194775],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009926643,"about_ca_system_score_gemma":0.0001708146,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000340938,"about_ca_topic_score_gemma":0.0002490099,"domain_scores_codex":[0.9988478,0.0003600121,0.0001981632,0.000318168,0.0001028959,0.0001729225],"domain_scores_gemma":[0.9982491,0.00004924663,0.00005462698,0.001297323,0.0002103745,0.0001393408],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001519767,0.0002738862,0.002521058,0.000006316678,0.00003810308,0.00002269478,0.00006792101,0.00008904,0.9774615,0.006357364,0.01236578,0.0006444236],"study_design_scores_gemma":[0.001329258,0.0001905598,0.02304723,0.0000129801,0.0001515693,0.0002119279,0.0001032403,0.0006802583,0.01982309,0.0009106625,0.9531068,0.0004324391],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8504577,0.03410311,0.03261735,0.05995179,0.008756271,0.001285104,0.0006859114,0.0003556919,0.01178706],"genre_scores_gemma":[0.9821823,0.0005369862,0.01003448,0.003085555,0.000511422,0.00005503936,0.002666849,0.00001942484,0.0009080056],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9576383,"threshold_uncertainty_score":0.5256439,"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."}}