{"id":"W4286715763","doi":"10.1002/acn3.51633","title":"<scp><i>GGPS1</i></scp>‐associated muscular dystrophy with and without hearing loss","year":2022,"lang":"en","type":"article","venue":"Annals of Clinical and Translational Neurology","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Human Genome Research Institute; Medical Research Council; Deutsche Forschungsgemeinschaft; Rosetrees Trust; National Institute for Health and Care Research; Medical Research Council Canada; Brain Research UK; University College London; National Eye Institute; Wellcome Trust","keywords":"Medicine; Muscular dystrophy; Hearing loss; Audiology; Bioinformatics; Internal medicine; Biology","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"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":[0.0002167469,0.0008667859,0.0003120043,0.0008538959,0.0009462373,0.0003007241,0.000272873,0.0003995394,0.002578548],"category_scores_gemma":[0.001092583,0.0001741211,0.0002404188,0.000504719,0.0006401974,0.0001694195,0.000746408,0.0004056851,0.0003085098],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001765218,"about_ca_system_score_gemma":0.0002156046,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001619309,"about_ca_topic_score_gemma":0.001722418,"domain_scores_codex":[0.9997638,0.00003195729,0.00003258828,0.00008833381,0.00003525447,0.00004815908],"domain_scores_gemma":[0.9994918,0.0001433007,0.000122851,0.00005733137,0.00004657408,0.0001380809],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.001077508,0.0002219865,0.5981739,0.0001845903,0.0002464121,0.2567055,0.003268562,0.0004721371,0.1001466,0.00107508,0.00163244,0.03679534],"study_design_scores_gemma":[0.00004493773,0.0006143001,0.5238245,0.00004800116,0.0001209981,0.4592964,0.0009637145,0.0005040288,0.01029692,0.000505522,0.003736496,0.00004421362],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976829,0.0001449746,0.0006278972,0.00005372136,0.00001158164,0.0000142883,0.000158146,0.00001801879,0.001288493],"genre_scores_gemma":[0.9990678,0.00007573076,0.0002916132,0.00004255207,0.00001417627,0.000007983585,0.00009496511,0.000007467639,0.0003976731],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002578548,"threshold_uncertainty_score":0.008626103,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05648172137928699,"score_gpt":0.3290829043486609,"score_spread":0.2726011829693739,"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."}}