{"id":"W2108656862","doi":"10.1111/j.1469-8749.2010.03907.x","title":"Expanding the clinical phenotype of the mitochondrial m.13513G>A mutation with the first report of a fatal neonatal presentation","year":2011,"lang":"en","type":"article","venue":"Developmental Medicine & Child Neurology","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"","keywords":"Lactic acidosis; Mitochondrial DNA; Mitochondrial disease; Phenotype; Hypotonia; Asymptomatic; Mutation; MELAS syndrome; Encephalopathy; Medicine; Biology; Pediatrics; Genetics; Pathology; Mitochondrial myopathy; Internal medicine; 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":[0.0003962615,0.001022862,0.0005743856,0.0008958349,0.0006264969,0.0003978695,0.0004547971,0.001578436,0.002026626],"category_scores_gemma":[0.003272164,0.0002577711,0.0002944809,0.0003081388,0.0009545907,0.0005613086,0.0008369668,0.001008096,0.001047973],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004340511,"about_ca_system_score_gemma":0.0003888721,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001237606,"about_ca_topic_score_gemma":0.001221729,"domain_scores_codex":[0.999705,0.00005846272,0.00004737915,0.00006929768,0.00006411536,0.00005559283],"domain_scores_gemma":[0.9991779,0.0002618684,0.0002067132,0.00005236942,0.0000871357,0.0002139769],"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":[0.0000889231,0.00003770642,0.054692,0.00007508456,0.00001064843,0.9218798,0.0003847467,0.0001573435,0.01278576,0.0003384591,0.00125803,0.008291478],"study_design_scores_gemma":[0.000005755565,0.0001028966,0.03154345,0.00003863192,0.00001146422,0.9629852,0.0001615375,0.0001734709,0.00333237,0.000244226,0.001383985,0.00001701122],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9730904,0.002406307,0.005703414,0.0026159,0.000422328,0.0001178854,0.0003629346,0.0002268725,0.01505413],"genre_scores_gemma":[0.9962277,0.0007712664,0.001589685,0.0003725601,0.0001961381,0.00002403827,0.00008602396,0.00002718057,0.0007053536],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002026626,"threshold_uncertainty_score":0.00677973,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02350621181401242,"score_gpt":0.2701387497353014,"score_spread":0.246632537921289,"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."}}