{"id":"W2767754565","doi":"10.1177/2329048x17737638","title":"Novel LRPPRC Mutation in a Boy With Mild Leigh Syndrome, French–Canadian Type Outside of Québec","year":2017,"lang":"en","type":"article","venue":"Child Neurology Open","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Leigh disease; Exome sequencing; Missense mutation; Mutation; Genetics; Mitochondrial DNA; Cytochrome c oxidase; Biology; Gene; Mitochondrion","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":[0.0001632482,0.001143467,0.0005322128,0.001415293,0.003544797,0.000631917,0.0008074282,0.001637894,0.003730885],"category_scores_gemma":[0.0009025262,0.0003471692,0.0004851947,0.001210921,0.001232744,0.0003293624,0.0006620318,0.001391661,0.000407456],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.005128142,"about_ca_system_score_gemma":0.006547464,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.6857257,"about_ca_topic_score_gemma":0.7372968,"domain_scores_codex":[0.9996197,0.00002117712,0.00002033269,0.0001107365,0.0001003677,0.0001276238],"domain_scores_gemma":[0.9992449,0.0001469717,0.0001119402,0.0000146054,0.0001465553,0.0003350313],"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":[0.0001027322,0.00005976873,0.04266798,0.00006794447,0.00002381557,0.9398407,0.002378395,0.0002571128,0.007829279,0.0006126417,0.002093646,0.004066028],"study_design_scores_gemma":[0.00004808545,0.0001421304,0.1634319,0.00008477276,0.00005817291,0.8242925,0.001560805,0.00113471,0.001939992,0.000178459,0.00705059,0.00007780329],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9857377,0.001061843,0.0009043613,0.002023253,0.000128268,0.00008046506,0.000997731,0.0001117014,0.008954702],"genre_scores_gemma":[0.9950922,0.0003022533,0.001056241,0.00047061,0.00004583326,0.00001287933,0.0001985756,0.00003285044,0.002788587],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6857257,"threshold_uncertainty_score":0.6322501,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01900770359145004,"score_gpt":0.2518985924502385,"score_spread":0.2328908888587884,"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."}}