{"id":"W4411928113","doi":"10.1111/cge.70011","title":"Expanding the Genetic and Phenotypic Spectrum of <scp> <i>POLRMT</i> </scp> ‐Related Mitochondrial Disease","year":2025,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"Medical Research Council; Wellcome Trust Centre for Mitochondrial Research; Knut och Alice Wallenbergs Stiftelse; Pathological Society of Great Britain and Ireland; Lily Foundation; National Institute for Health and Care Research; Swedish Cancer Foundation; LifeArc; Vetenskapsrådet; Eesti Teadusagentuur; Fight for Sight","keywords":"Phenotype; Genetics; Biology; 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":[0.0004059823,0.0007676972,0.0004141688,0.001229196,0.0004021086,0.0004855114,0.0002925971,0.0004972547,0.002169059],"category_scores_gemma":[0.00111255,0.0001080417,0.000276337,0.0006916641,0.0005983411,0.0002707116,0.0007937466,0.0004469941,0.0002613497],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002125732,"about_ca_system_score_gemma":0.0002298128,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001140158,"about_ca_topic_score_gemma":0.001151516,"domain_scores_codex":[0.9996216,0.0000732823,0.00005203604,0.0001225141,0.00008004418,0.00005034568],"domain_scores_gemma":[0.9995257,0.0001926006,0.00008959842,0.00003068541,0.00006805636,0.00009346307],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001052457,0.0003443811,0.393782,0.0001649847,0.0001247366,0.1445084,0.001804694,0.001948553,0.3841603,0.001774589,0.001326121,0.06900886],"study_design_scores_gemma":[0.00007169503,0.0007353041,0.6670806,0.0001190236,0.00017972,0.294668,0.0009068932,0.003365397,0.02446049,0.001865355,0.006488606,0.00005899126],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9946588,0.0004907902,0.001588958,0.0002630411,0.00001423568,0.00002310225,0.0002505775,0.00004461431,0.002665835],"genre_scores_gemma":[0.9983326,0.0002692625,0.0009052694,0.0001026683,0.000031227,0.000005911469,0.0001628547,0.0000160491,0.0001742601],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002169059,"threshold_uncertainty_score":0.007256269,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01760168563099098,"score_gpt":0.3015278664270402,"score_spread":0.2839261807960492,"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."}}