{"id":"W4402420971","doi":"10.1101/2024.09.05.24313021","title":"A novel variant in MFN2 linked to a lethal disorder of neonatal onset","year":2024,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary; Alberta Children's Hospital","funders":"Canadian Institutes of Health Research; Alberta Children's Hospital Research Institute","keywords":"MFN2; Phenotype; mitochondrial fusion; Biology; Disease; Clinical phenotype; Mitochondrion; Genetics; Medicine; Mitochondrial DNA; Gene; Pathology","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":[0.00016364,0.001077927,0.0003537433,0.000499033,0.0003501133,0.0002220252,0.0003759676,0.0009616896,0.002328892],"category_scores_gemma":[0.0006182622,0.0001706715,0.0003682634,0.0002433298,0.000450193,0.000202595,0.0005012008,0.0005585797,0.0005252903],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003822094,"about_ca_system_score_gemma":0.0002575586,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001322423,"about_ca_topic_score_gemma":0.001162283,"domain_scores_codex":[0.9998492,0.00001962086,0.00001949532,0.00004881778,0.00003430533,0.00002846696],"domain_scores_gemma":[0.9997168,0.0000571589,0.00008520218,0.0000159258,0.00002738437,0.00009744315],"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":[0.0005117308,0.00009686253,0.01598621,0.0001619989,0.00007702159,0.5872703,0.0005177215,0.0004929523,0.3870535,0.0008541794,0.0007800601,0.006197379],"study_design_scores_gemma":[0.00008111521,0.0006186844,0.09227002,0.00006084792,0.0001128885,0.8037353,0.0002784097,0.002173648,0.09555662,0.0005135932,0.004531383,0.00006752938],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9955395,0.0003346546,0.002178014,0.0001719451,0.00005885204,0.00003549549,0.0003823676,0.00008925037,0.001209912],"genre_scores_gemma":[0.9972231,0.0001529298,0.001010428,0.00009458009,0.0000338719,0.00001991409,0.0002966487,0.00003121747,0.001137346],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002328892,"threshold_uncertainty_score":0.007790983,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01622451992767252,"score_gpt":0.2698773783209097,"score_spread":0.2536528583932372,"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."}}