{"id":"W2896326568","doi":"10.1093/hmg/ddy370","title":"The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons","year":2018,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Cellular transport and secretion","field":"Biochemistry, Genetics and Molecular Biology","cited_by":65,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal","funders":"Fondazione Cassa di Risparmio di Genova e Imperia; Medical Research Council; Università degli Studi di Genova; Compagnia di San Paolo","keywords":"Haploinsufficiency; Biology; Neuroscience; Genetics; Gene; Phenotype","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":[0.0004245965,0.0001841782,0.0001376671,0.00004032389,0.0003653579,0.00006008724,0.0001787183,0.0001583202,0.000006356564],"category_scores_gemma":[0.00003878973,0.0001783477,0.00007097335,0.0000907582,0.0001731212,0.000003455743,0.00005881959,0.00008272647,0.000002418893],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002078692,"about_ca_system_score_gemma":0.00008095377,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009359391,"about_ca_topic_score_gemma":0.0009088478,"domain_scores_codex":[0.9986554,0.00007308765,0.0003201727,0.0003750484,0.0001848431,0.0003914386],"domain_scores_gemma":[0.9994178,0.00000745698,0.0000920981,0.0002767194,0.0001298978,0.00007606212],"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":[0.00006443756,0.00004456356,0.003312409,0.00001375254,0.0000323022,0.000005622852,0.0002865111,0.000005858201,0.9943536,0.0002029623,0.00007171839,0.001606261],"study_design_scores_gemma":[0.001878574,0.0006994419,0.1000108,0.00003411361,0.00003594128,0.000004190661,0.0001450793,0.0003898346,0.8105723,0.0002476557,0.08548257,0.0004994106],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9916209,0.0005438479,0.006798259,0.00009475098,0.00008711973,0.0005188344,0.000009806473,0.00001290796,0.0003135968],"genre_scores_gemma":[0.9982854,0.00003144849,0.000644337,0.0001279581,0.0001036169,0.00005457575,0.0003814011,0.00004385573,0.0003274101],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1837813,"threshold_uncertainty_score":0.7272807,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01866357586966758,"score_gpt":0.2489163715220118,"score_spread":0.2302527956523442,"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."}}