{"id":"W2502456218","doi":"10.1007/8904_2016_559","title":"Leigh-Like Syndrome Due to Homoplasmic m.8993T&gt;G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)","year":2016,"lang":"en","type":"article","venue":"JIMD Reports","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":23,"is_retracted":false,"has_abstract":true,"ca_institutions":"Vancouver General Hospital; University of British Columbia; Child and Family Research Institute","funders":"","keywords":"Exome sequencing; Hypotonia; Lactic acidosis; Medicine; Mitochondrial disease; Leigh disease; Internal medicine; Endocrinology; Failure to thrive; Hyperammonemia; Genetics; Mitochondrial DNA; Biology; Mutation; 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":[0.0001753741,0.001926151,0.0005814221,0.0009376308,0.0008132965,0.0004023983,0.0006855861,0.001974713,0.001757981],"category_scores_gemma":[0.001226944,0.0005804396,0.0005196861,0.0008699039,0.00114341,0.0004779308,0.0006938243,0.001261799,0.0005258066],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004712045,"about_ca_system_score_gemma":0.0004221659,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003114592,"about_ca_topic_score_gemma":0.003271861,"domain_scores_codex":[0.9996386,0.00004958773,0.00004068757,0.0001135066,0.00005845616,0.00009917608],"domain_scores_gemma":[0.9993777,0.000198198,0.0001864891,0.0000293958,0.00003010987,0.0001780479],"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":[0.0001039136,0.00003616301,0.010046,0.00003387475,0.00001675665,0.9823773,0.0002177068,0.00007077782,0.005295258,0.0001669191,0.0003288677,0.001306519],"study_design_scores_gemma":[0.00003401401,0.0001767446,0.02541862,0.00001324504,0.00003023175,0.9716852,0.0001082412,0.0003237005,0.001512879,0.0001535998,0.0005283723,0.00001505977],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933229,0.0009156727,0.001555267,0.0008616539,0.0001199015,0.00009614869,0.0002107176,0.0001560952,0.002761519],"genre_scores_gemma":[0.9981262,0.0002819201,0.0005523581,0.0002530885,0.0001227032,0.00001329917,0.00007989661,0.00002106734,0.0005494218],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003114592,"threshold_uncertainty_score":0.006192923,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004732914772155554,"score_gpt":0.2037874533553039,"score_spread":0.1990545385831483,"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."}}