{"id":"W2891701522","doi":"10.1016/j.ajhg.2018.08.013","title":"Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency","year":2018,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":64,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Medical Research Council; National Health and Medical Research Council; Lily Foundation; NIHR BioResource; Medical Research Council Canada; Bundesministerium für Bildung und Forschung; National Institute for Health and Care Research; E-Rare; Grantová Agentura České Republiky; NIHR Cambridge Biomedical Research Centre; Rosetrees Trust; Deutsche Forschungsgemeinschaft; Australian Mitochondrial Disease Foundation; Wellcome Trust","keywords":"RefSeq; Biology; Protein subunit; Gene; Genetics; Phenotype; Mitochondrial disease; Allele; RNA splicing; Mitochondrial DNA; Computational biology; Molecular biology; RNA; Genome","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001859882,0.0003924987,0.0001900067,0.0005530257,0.0001789007,0.0002576387,0.0002539016,0.0004478462,0.001442279],"category_scores_gemma":[0.0007184322,0.000117272,0.0002194672,0.0002472204,0.0002250403,0.0001705401,0.0004260726,0.0003776887,0.0005285673],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001291505,"about_ca_system_score_gemma":0.0000832314,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005589661,"about_ca_topic_score_gemma":0.0005236379,"domain_scores_codex":[0.9998517,0.00001720381,0.000021399,0.00004748228,0.00004241162,0.00001966293],"domain_scores_gemma":[0.9997464,0.00008383791,0.00005619937,0.00002561412,0.00003001038,0.00005783803],"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":[0.0008717946,0.00007557121,0.06267478,0.0001305047,0.0000495956,0.01821476,0.0004934917,0.0002127951,0.9037776,0.0003616256,0.0002123151,0.01292516],"study_design_scores_gemma":[0.00006270887,0.0004942879,0.5328824,0.0000728188,0.0001497683,0.1423632,0.0004452711,0.002796649,0.3087903,0.001040221,0.01085164,0.00005071253],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9969265,0.0006710594,0.001380166,0.00004699393,0.00001614166,0.000009103198,0.000332176,0.00003297392,0.0005849805],"genre_scores_gemma":[0.9978053,0.0003141427,0.001089083,0.00002786944,0.00001064745,0.000003287706,0.0003419378,0.00001397408,0.0003937715],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001442279,"threshold_uncertainty_score":0.004824936,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01937256950884915,"score_gpt":0.2825428269238622,"score_spread":0.2631702574150131,"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."}}