{"id":"W3110941466","doi":"10.1002/jimd.12341","title":"Expanding the clinical and molecular spectrum of <scp><i>ATP6V1A</i></scp> related metabolic cutis laxa","year":2020,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"ATP Synthase and ATPases Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"National Eye Institute; National Heart, Lung, and Blood Institute; Medical Research Council; Canadian Institutes of Health Research; Lily Foundation; Bundesministerium für Bildung und Forschung; Deutsche Forschungsgemeinschaft; Ataxia UK; Muscular Dystrophy Canada; Medical Research Council Canada; Newton Fund; Canada Foundation for Innovation; Canada Research Chairs; E-Rare; Broad Institute; National Human Genome Research Institute; Wellcome Trust","keywords":"Cutis laxa; Human genetics; Medicine; Biology; Genetics; Gene; Dermatology","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":[0.0002253777,0.0008755144,0.0003320194,0.001081292,0.0004195727,0.0004496327,0.0002534841,0.0006007073,0.002156629],"category_scores_gemma":[0.0004840281,0.0001461512,0.000289768,0.0005325289,0.0005225719,0.0003018921,0.0004342019,0.0004504057,0.0003321613],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002001004,"about_ca_system_score_gemma":0.0001942095,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009692375,"about_ca_topic_score_gemma":0.0008448368,"domain_scores_codex":[0.9997756,0.00002838717,0.00003597362,0.0000789308,0.0000398923,0.00004118438],"domain_scores_gemma":[0.9997535,0.0000662753,0.00005922348,0.00002035007,0.00004128606,0.00005939022],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0008847257,0.0002316182,0.2701336,0.000347247,0.0001245673,0.3028222,0.001240281,0.0005813583,0.3586721,0.001111423,0.001549635,0.06230134],"study_design_scores_gemma":[0.00004810074,0.0003999664,0.2586522,0.00008944677,0.0001117828,0.7077996,0.000528815,0.0007935264,0.02379204,0.0007232213,0.007033772,0.00002740645],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9923871,0.001455382,0.00184034,0.0003246255,0.00002280486,0.00003456315,0.0002919353,0.00007480663,0.003568484],"genre_scores_gemma":[0.9974697,0.000637951,0.001105798,0.0001345379,0.00004020015,0.000007265251,0.0002315645,0.00001563688,0.0003574106],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002156629,"threshold_uncertainty_score":0.007214606,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02432813989476837,"score_gpt":0.3197612721153125,"score_spread":0.2954331322205441,"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."}}