{"id":"W6976300135","doi":"10.60692/s0r0y-kjv31","title":"POLRMT mutations impair mitochondrial transcription causing neurological disease","year":2021,"lang":"en","type":"article","venue":"Greater South Information System","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University; McMaster Children's Hospital","funders":"","keywords":"Mitochondrial DNA; Transcription (linguistics); Mitochondrial disease; Human mitochondrial genetics; Polymerase; Mitochondrion; RNA polymerase II; Phenotype; Gene; Mutation","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":[0.0001023072,0.0005702524,0.0002195896,0.0002579902,0.0001835009,0.0002937317,0.000133994,0.0003659453,0.002663844],"category_scores_gemma":[0.000386939,0.00009574786,0.0001384924,0.0001492659,0.0003064239,0.0001268302,0.0002364684,0.0002739822,0.0004626203],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000159156,"about_ca_system_score_gemma":0.00009335134,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004509646,"about_ca_topic_score_gemma":0.0005469551,"domain_scores_codex":[0.9998809,0.0000198354,0.00001923597,0.00003825731,0.0000281289,0.00001363537],"domain_scores_gemma":[0.9998342,0.00006054944,0.00005446526,0.00001218387,0.00001411149,0.00002456038],"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":[0.0002402303,0.0000356406,0.01619725,0.000078036,0.00003446633,0.008888205,0.0001582717,0.0003310849,0.9679016,0.0003084356,0.0002726284,0.005554105],"study_design_scores_gemma":[0.0001624759,0.001088548,0.2002626,0.0001266242,0.0002338856,0.1622134,0.0004153,0.004290359,0.617116,0.0009898623,0.01305188,0.00004906662],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968239,0.0005523052,0.001090879,0.00006817204,0.00001556601,0.000007502776,0.0002623404,0.0000656966,0.001113574],"genre_scores_gemma":[0.9984536,0.0001879852,0.0005407655,0.00003777477,0.00001112009,0.000003953183,0.0002345696,0.00001634987,0.0005138948],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002663844,"threshold_uncertainty_score":0.00891149,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02394749688810644,"score_gpt":0.219801013081457,"score_spread":0.1958535161933506,"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."}}