{"id":"W7124464871","doi":"10.47310/iarms.2020.v01i01.009","title":"French Canadian Leigh Syndrome Due To Novel LRPPRC Variants C.1921?7A>G/C.2056A>G is Clinically Similar to Classical Leigh Syndrome","year":2020,"lang":"","type":"article","venue":"IAR-Medical Series","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Hypotonia; Epilepsy; Lactic acidosis; Atrophy; Cerebellar hypoplasia (non-human); Leigh disease; Cerebellum; Psychomotor retardation; Corpus callosum","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003593938,0.001835924,0.0006996478,0.001356154,0.001933558,0.001137419,0.001418361,0.003866714,0.005683061],"category_scores_gemma":[0.002222646,0.0003668939,0.0007729417,0.001641721,0.002296377,0.0005828825,0.0006142219,0.00231532,0.0006527372],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003035439,"about_ca_system_score_gemma":0.0031586,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.1271191,"about_ca_topic_score_gemma":0.1500942,"domain_scores_codex":[0.9991977,0.00006944525,0.00005349339,0.0001928198,0.0002145154,0.0002720222],"domain_scores_gemma":[0.9991494,0.0002768686,0.0001841366,0.0000399493,0.000139461,0.0002101536],"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":[0.0001849543,0.00003989548,0.01152905,0.0001487554,0.00006684588,0.9645253,0.0003977553,0.0001835238,0.004111798,0.001500711,0.01286773,0.004443612],"study_design_scores_gemma":[0.0001006316,0.00007629878,0.02644437,0.00009028133,0.0001497842,0.9562139,0.000375902,0.0006579323,0.001087104,0.0006566877,0.01406502,0.00008222491],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8337774,0.02450946,0.004425407,0.07095689,0.005602074,0.0006222873,0.002882089,0.0009560239,0.05626849],"genre_scores_gemma":[0.9793676,0.003127051,0.001699771,0.007136604,0.002887013,0.00004785115,0.0003754754,0.00009223402,0.005266444],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8728809,"threshold_uncertainty_score":0.2527583,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01900004300203027,"score_gpt":0.2537515182620013,"score_spread":0.2347514752599711,"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."}}