{"id":"W4229020596","doi":"10.1016/j.ymgmr.2022.100877","title":"A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options","year":2022,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism Reports","topic":"Coenzyme Q10 studies and effects","field":"Biochemistry, Genetics and Molecular Biology","cited_by":26,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"Canadian Institutes of Health Research","keywords":"Coenzyme Q10; Mitochondrial disease; Mutation; Mitochondrion; Caspofungin; Coenzyme Q – cytochrome c reductase; Biology; Mitochondrial respiratory chain; Pharyngeal muscles; Bioinformatics; Disease; Medicine; Gene; Internal medicine; Mitochondrial DNA; Biochemistry; Surgery; Microbiology; Voriconazole","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":[0.00008895835,0.0006721872,0.0004633892,0.0004900629,0.0004259544,0.000274662,0.0004134513,0.00220528,0.001338608],"category_scores_gemma":[0.0003319463,0.0001361234,0.0004228443,0.0002159927,0.0004775692,0.0002438691,0.0003086742,0.0007210723,0.0004573434],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003996053,"about_ca_system_score_gemma":0.0002868325,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006255514,"about_ca_topic_score_gemma":0.0006780658,"domain_scores_codex":[0.9998705,0.00001439217,0.00001398504,0.0000392631,0.00002638424,0.00003550855],"domain_scores_gemma":[0.9998233,0.00003640259,0.00002492512,0.000008832849,0.00002114304,0.00008547227],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002190151,0.0001603125,0.007303383,0.0001042435,0.00003518708,0.923045,0.00007644607,0.0002590037,0.04474461,0.001593629,0.001855838,0.02060337],"study_design_scores_gemma":[0.000073583,0.0004384275,0.008684389,0.00004305583,0.00005398635,0.970718,0.00006735453,0.001010344,0.01077631,0.000745471,0.007368701,0.00002040718],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9526926,0.01633856,0.007416178,0.006626686,0.0007439614,0.000167937,0.0003121197,0.0002678551,0.01543398],"genre_scores_gemma":[0.988885,0.002484003,0.003369106,0.001416822,0.0003384202,0.00003253299,0.0002287438,0.00003676163,0.003208566],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00220528,"threshold_uncertainty_score":0.004478037,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009447631219052587,"score_gpt":0.2382193265470378,"score_spread":0.2287716953279852,"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."}}