{"id":"W6939926994","doi":"10.6084/m9.figshare.c.7786164","title":"Using chanarin-dorfman syndrome patient fibroblasts to explore disease mechanisms and new treatment avenues","year":2025,"lang":"en","type":"other","venue":"Figshare","topic":"Mycorrhizal Fungi and Plant Interactions","field":"Agricultural and Biological Sciences","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary","funders":"","keywords":"Disease; Gene; Nonsense-mediated decay; Nonsense; Repurposing; Nonsense mutation; Drug","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":[0.0002779761,0.0004719642,0.0003182707,0.0003459999,0.0002678528,0.0003136855,0.0002373072,0.0004464232,0.002864507],"category_scores_gemma":[0.000124895,0.00008009182,0.0003229413,0.0002537017,0.0001836378,0.0001450071,0.0001863441,0.0003775487,0.0004598899],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002962298,"about_ca_system_score_gemma":0.0001868025,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00100025,"about_ca_topic_score_gemma":0.002045744,"domain_scores_codex":[0.9998672,0.00002506779,0.00001648207,0.00003384198,0.00003822987,0.00001914013],"domain_scores_gemma":[0.9999166,0.00003224174,0.00001076033,0.00001132195,0.00001324086,0.0000159652],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0002249801,0.0001277662,0.001303024,0.0001204676,0.00002209408,0.001111939,0.00003215159,0.00015784,0.9882352,0.0002090305,0.0002245915,0.008230863],"study_design_scores_gemma":[0.0001021507,0.00103183,0.006824213,0.00001961185,0.00007214888,0.002673464,0.0001278954,0.001185607,0.9769195,0.0001788531,0.0108489,0.00001573377],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9737248,0.00853166,0.006772364,0.0006054268,0.0001261789,0.000267269,0.002527576,0.0001857065,0.007259048],"genre_scores_gemma":[0.9823643,0.003351016,0.00834087,0.0002782697,0.00001888641,0.0001287376,0.001359255,0.00002086766,0.004137907],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002864507,"threshold_uncertainty_score":0.009582758,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08116084222876187,"score_gpt":0.2557689514485096,"score_spread":0.1746081092197477,"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."}}