{"id":"W4318016607","doi":"10.1212/nxg.0000000000200048","title":"Novel Homozygous Variant in <i>COQ7</i> in Siblings With Hereditary Motor Neuropathy","year":2023,"lang":"en","type":"article","venue":"Neurology Genetics","topic":"Coenzyme Q10 studies and effects","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa","funders":"Genome Alberta; Canada Research Chairs; Genome British Columbia; Muscular Dystrophy Canada; Canadian Institutes of Health Research; Genome Canada; Ontario Genomics; Ontario Genomics Institute; University of Ottawa","keywords":"Exome sequencing; Muscle biopsy; Compound heterozygosity; Biology; Coenzyme Q10; Carnitine; Internal medicine; Methionine; Muscle atrophy; Hydroxylation; Atrophy; Amino acid; Endocrinology; Medicine; Pathology; Genetics; Biochemistry; Biopsy; Gene; Enzyme; Mutation","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002270319,0.001839141,0.0005579107,0.0007926675,0.00146799,0.0004315011,0.0007707583,0.002262882,0.003646506],"category_scores_gemma":[0.001229342,0.00054461,0.0005586306,0.0007076278,0.0009396833,0.0004280473,0.00083916,0.001037841,0.000632136],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005606972,"about_ca_system_score_gemma":0.000532412,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004062643,"about_ca_topic_score_gemma":0.00374824,"domain_scores_codex":[0.999634,0.0000351317,0.00003389057,0.0001524004,0.00007517712,0.00006937341],"domain_scores_gemma":[0.9993993,0.0001685554,0.0001221662,0.00002917663,0.00006036671,0.0002204178],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.00010787,0.00009120168,0.03173071,0.00004177756,0.00003309229,0.9511083,0.0007536495,0.0001398354,0.01313271,0.0002347939,0.0005817066,0.002044379],"study_design_scores_gemma":[0.00004167302,0.0003176836,0.0874033,0.0000423139,0.00006969194,0.9048135,0.0004935338,0.0006027342,0.004070811,0.0004471189,0.001654057,0.00004359359],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995199,0.0002855087,0.001130152,0.000547374,0.00007206367,0.00005522137,0.0003566795,0.00008362762,0.002270322],"genre_scores_gemma":[0.9984463,0.00009846413,0.0005062285,0.0001831645,0.00004061057,0.00001061391,0.0001100625,0.00001794696,0.0005866184],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004062643,"threshold_uncertainty_score":0.01219875,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007995975143190346,"score_gpt":0.2161066229760286,"score_spread":0.2081106478328383,"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."}}