{"id":"W3098621059","doi":"10.1002/ajmg.a.61983","title":"Clinical spectrum in multiple families with primary <scp>COQ<sub>10</sub></scp> deficiency","year":2020,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Coenzyme Q10 studies and effects","field":"Biochemistry, Genetics and Molecular Biology","cited_by":27,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute for Medical Research Development; University of Social Welfare and Rehabilitation Sciences","keywords":"Hereditary spastic paraplegia; Genetics; Gene; Biology; Compound heterozygosity; Exome sequencing; Phenotype; Genetic heterogeneity; Medicine","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000756923,0.0002263822,0.0005773102,0.00005520184,0.00005940387,0.00001924525,0.0004650602,0.0001287726,0.00001148838],"category_scores_gemma":[0.001262104,0.0001748439,0.0001896574,0.0003314732,0.0007130775,0.000003871421,0.0002520985,0.0004709774,0.00001368059],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001833999,"about_ca_system_score_gemma":0.000425924,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000008994459,"about_ca_topic_score_gemma":0.00006646509,"domain_scores_codex":[0.9974569,0.0002191731,0.0007405611,0.000352867,0.0007820772,0.0004483967],"domain_scores_gemma":[0.9984385,0.0002561639,0.0003963262,0.0002175828,0.0001010035,0.0005904486],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001344182,0.001510293,0.5080188,0.0001809848,0.0006874535,0.001250282,0.001665089,0.001137844,0.08040161,0.00001246872,0.2160783,0.1877127],"study_design_scores_gemma":[0.01437166,0.05488042,0.2807865,0.0005617305,0.0003875811,0.0009016952,0.007524015,0.002252113,0.09529453,0.00003839616,0.5420237,0.0009775697],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9932662,0.00331925,0.001275843,0.00156162,0.0001923322,0.0001167426,0.00000563808,0.000006447573,0.0002559561],"genre_scores_gemma":[0.9856527,0.01000232,0.000709932,0.002617441,0.0009582434,0.000005225888,0.000008663239,0.00002973873,0.00001576811],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3259455,"threshold_uncertainty_score":0.7129927,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0143833796255564,"score_gpt":0.2652617029386515,"score_spread":0.2508783233130951,"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."}}