{"id":"W3211315038","doi":"10.1016/j.ajhg.2021.10.002","title":"Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations","year":2021,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"RNA modifications and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":57,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa; Children's Hospital of Eastern Ontario","funders":"Manchester Biomedical Research Centre; National Institute for Health and Care Research; Action Medical Research; Royal National Institute for Deaf People; Wellcome Trust","keywords":"RNase P; Biology; Transfer RNA; RNase MRP; Mitochondrial DNA; Mitochondrion; Protein subunit; Mitochondrial disease; Phenotype; Genetics; Molecular biology; Allele; RNA; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002173597,0.001447445,0.0003954444,0.0008515116,0.0006028515,0.0003107216,0.0003605851,0.0007218727,0.001501378],"category_scores_gemma":[0.0007329359,0.0003402095,0.0002380832,0.0006137073,0.0007336558,0.0001939753,0.000752104,0.0005364454,0.0002825928],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002623841,"about_ca_system_score_gemma":0.0001658407,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005606979,"about_ca_topic_score_gemma":0.0006921079,"domain_scores_codex":[0.9996451,0.00006606984,0.00004287512,0.0001225612,0.00007347058,0.00004978166],"domain_scores_gemma":[0.9994475,0.0001370342,0.0001899858,0.00003843769,0.00003254856,0.0001544191],"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":[0.00218877,0.0003668548,0.1397444,0.0002157033,0.0002456243,0.3195189,0.001144418,0.0007235834,0.5190976,0.001082738,0.0009262888,0.01474529],"study_design_scores_gemma":[0.000151951,0.001173326,0.2933656,0.00003935508,0.0002464358,0.6561112,0.0003837071,0.001075243,0.04470746,0.0004604027,0.002216425,0.00006884436],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985857,0.0002374702,0.0005511534,0.0000457704,0.000006086835,0.00001117218,0.00008962426,0.00002512406,0.0004478981],"genre_scores_gemma":[0.9989894,0.000122883,0.0003850196,0.00002911094,0.00001117467,0.000007039322,0.0001119309,0.00001257997,0.0003308868],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001501378,"threshold_uncertainty_score":0.005022645,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02330853197915193,"score_gpt":0.3023172782951044,"score_spread":0.2790087463159525,"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."}}