{"id":"W2900264138","doi":"10.1002/acn3.661","title":"Novel pathogenic <i><scp>COX</scp>20</i> variants causing dysarthria, ataxia, and sensory neuropathy","year":2018,"lang":"en","type":"article","venue":"Annals of Clinical and Translational Neurology","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":26,"is_retracted":false,"has_abstract":true,"ca_institutions":"Memorial University of Newfoundland; Janeway Children's Health and Rehabilitation Centre","funders":"National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute; National Institutes of Health; Cedars-Sinai Medical Center","keywords":"Missense mutation; Hypotonia; Genetics; Exome sequencing; Medicine; Ataxia; Dystonia; Intron; Dysarthria; Splice site mutation; Phenotype; splice; Exon; Gene; Biology; Alternative splicing; Audiology","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":[0.0002326495,0.001792664,0.0003676311,0.0008566839,0.0007016015,0.0004857317,0.000417142,0.001064659,0.003650271],"category_scores_gemma":[0.0007713876,0.0002927411,0.0004223218,0.0005419941,0.0007994792,0.0001908359,0.0004709341,0.0005796504,0.0005852847],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000366509,"about_ca_system_score_gemma":0.0002796292,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001524794,"about_ca_topic_score_gemma":0.002075834,"domain_scores_codex":[0.9997625,0.00003384515,0.00003046835,0.0000690609,0.00005252845,0.00005157675],"domain_scores_gemma":[0.9994211,0.0001718672,0.0001792363,0.00002780076,0.00006036077,0.0001396773],"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":[0.0006651689,0.0003781684,0.06106986,0.0001545842,0.0001584156,0.706162,0.001166889,0.000668338,0.2162253,0.001889313,0.00304879,0.008413139],"study_design_scores_gemma":[0.0002569375,0.0008997598,0.163628,0.00008689667,0.0002264328,0.7850829,0.0005535044,0.002134273,0.03852707,0.001474404,0.007040011,0.00008987302],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9959985,0.0001661712,0.001007871,0.0001846795,0.00005523112,0.00004940768,0.0003570336,0.00008060019,0.002100545],"genre_scores_gemma":[0.9982071,0.00005666875,0.0006863402,0.0001035227,0.00007534315,0.00001247595,0.0001903641,0.00002400224,0.0006441753],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003650271,"threshold_uncertainty_score":0.01221138,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07719575386657272,"score_gpt":0.3386555299863876,"score_spread":0.2614597761198149,"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."}}