{"id":"W2120960164","doi":"10.1016/j.gene.2012.12.024","title":"Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2","year":2012,"lang":"en","type":"article","venue":"Gene","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":56,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; McMaster Children's Hospital","funders":"","keywords":"Biology; Genetics; Compound heterozygosity; Mutation; Mitochondrial DNA; Frameshift mutation; Mitochondrial disease; Heteroplasmy; Respiratory chain; Mitochondrial respiratory chain; Leigh disease; Gene; Mitochondrion","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":[0.0001883325,0.001837629,0.0007065416,0.001332141,0.0008794679,0.0004355442,0.001028289,0.001734328,0.003604728],"category_scores_gemma":[0.001971974,0.0006288526,0.0005381667,0.001138629,0.001663213,0.0006004185,0.0008038683,0.001186255,0.0004943932],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007636262,"about_ca_system_score_gemma":0.0005828845,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003342878,"about_ca_topic_score_gemma":0.002085287,"domain_scores_codex":[0.9997626,0.00004396302,0.00002846829,0.00005332818,0.00005627452,0.00005535067],"domain_scores_gemma":[0.9991034,0.0003963962,0.0002406871,0.00004100397,0.00004036341,0.0001781063],"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":[0.0004937312,0.0000504275,0.008532721,0.00008740238,0.00006123391,0.9687786,0.0002981848,0.0003383809,0.01682259,0.001378207,0.0007991893,0.002359448],"study_design_scores_gemma":[0.0002542454,0.0002012057,0.02243909,0.0000183317,0.0001515752,0.9590866,0.0002170874,0.002364423,0.01209861,0.001402386,0.001712244,0.00005416807],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9873353,0.001053742,0.004255697,0.001558895,0.0001721206,0.00008504658,0.0004095371,0.0003030991,0.00482661],"genre_scores_gemma":[0.9960239,0.000242044,0.001711225,0.0001632288,0.0001450887,0.00003697246,0.0001168972,0.00003219117,0.001528403],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003604728,"threshold_uncertainty_score":0.01205903,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02413276448121231,"score_gpt":0.2493524407470543,"score_spread":0.2252196762658419,"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."}}