{"id":"W6939138214","doi":"10.60692/yn6dd-cny22","title":"Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice","year":2022,"lang":"en","type":"article","venue":"Greater South Information System","topic":"Physics and Engineering Research Articles","field":"Engineering","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Concordia University","funders":"","keywords":"Phenotype; Knockout mouse; Mutant; Gene; Signal transducing adaptor protein; Mutation; Neurodevelopmental disorder; Disease","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002179254,0.0001042863,0.0001327176,0.0003325522,0.00005580677,0.00006077491,0.00009676655,0.00002470676,0.000007726039],"category_scores_gemma":[0.000002916557,0.0001098345,0.00001959898,0.0003341033,0.000008652785,0.0003340386,0.00003934765,0.0001437927,0.00002304715],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001061863,"about_ca_system_score_gemma":0.00001022448,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004239612,"about_ca_topic_score_gemma":0.000007015704,"domain_scores_codex":[0.9992137,0.00002632374,0.0002913265,0.00008036166,0.0001447284,0.0002435722],"domain_scores_gemma":[0.9998006,0.000004990413,0.00002105095,0.0001150796,0.000007947641,0.00005034573],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"qualitative","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.00007764743,0.00002522404,0.2392255,0.001469838,0.00008034355,0.00006098906,0.4010532,0.3506846,0.001149134,0.0004023208,0.0001370899,0.005634042],"study_design_scores_gemma":[0.003416146,0.0000700204,0.4087877,0.0001192929,0.000009233363,0.00004098576,0.02530027,0.5608744,0.0002668229,0.00003404927,0.0005515209,0.0005295147],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982821,0.00002357808,0.00100422,0.00001394377,0.00007424296,0.0001910208,0.00004146571,0.0001124694,0.0002569022],"genre_scores_gemma":[0.9997857,0.00000124681,0.00002812245,0.00001481259,0.00001184444,0.0001343233,0.000007493368,0.00001238292,0.000004135941],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.375753,"threshold_uncertainty_score":0.4478921,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01887109676159101,"score_gpt":0.1933206131564663,"score_spread":0.1744495163948753,"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."}}