{"id":"W4405464364","doi":"10.1093/braincomms/fcae453","title":"Biallelic <i>NDUFA13</i> variants lead to a neurodevelopmental phenotype with gradual neurological impairment","year":2024,"lang":"en","type":"letter","venue":"Brain Communications","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University; London Health Sciences Centre","funders":"Medical Research Council; Lily Foundation; Muskelsvindfonden; Medical Research Council Canada; Koning Boudewijnstichting; Seventh Framework Programme; University College London; Aligning Science Across Parkinson’s; Great Ormond Street Hospital Charity; National Institute for Health and Care Research; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; European Commission; Multiple System Atrophy Trust; Brain Research UK; LifeArc; Wellcome Trust; Mito Foundation; Muscular Dystrophy Association; Science and Technology Development Fund; Michael J. Fox Foundation for Parkinson's Research","keywords":"Missense mutation; Phenotype; Hypotonia; Oxidoreductase; Biology; Genetics; Internal medicine; Medicine; Gene; Biochemistry","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001583515,0.001015448,0.0002932982,0.0006085632,0.0003785458,0.0002799138,0.0002598099,0.0003892345,0.002904862],"category_scores_gemma":[0.0005157157,0.0001842534,0.0002566487,0.0003788031,0.000371412,0.000146945,0.0004341417,0.0003673652,0.000802947],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001605203,"about_ca_system_score_gemma":0.0001696731,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001431304,"about_ca_topic_score_gemma":0.001242412,"domain_scores_codex":[0.9997711,0.00002324735,0.00003700257,0.00008246092,0.00004406127,0.00004223497],"domain_scores_gemma":[0.9997262,0.0000629133,0.00009185041,0.00001721038,0.00002845412,0.00007325181],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.001315187,0.000302513,0.2476042,0.000177461,0.000273737,0.3964041,0.0007303698,0.0003779658,0.3215944,0.0005456269,0.002844449,0.02782999],"study_design_scores_gemma":[0.00006504065,0.0006809525,0.4674732,0.00006974822,0.0001899419,0.4961395,0.0003724172,0.0007995488,0.02932034,0.0003251688,0.004527878,0.00003628601],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9956251,0.0004590956,0.000947944,0.00008607282,0.00002466465,0.00002581276,0.0005488032,0.0001041433,0.002178431],"genre_scores_gemma":[0.9984387,0.0001814726,0.0003490717,0.00006554455,0.00001714832,0.000007513024,0.0002579297,0.00001881392,0.0006637382],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002904862,"threshold_uncertainty_score":0.009717703,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03301725708318138,"score_gpt":0.2725597411720919,"score_spread":0.2395424840889105,"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."}}