{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00006120114,0.0003997108,0.0002425578,0.0003018674,0.0002411417,0.000286961,0.0002590799,0.0002519214,0.0008091535],"category_scores_gemma":[0.0001145189,0.0001414449,0.0002001289,0.0002151713,0.0002755388,0.0001291584,0.0003233459,0.0002415239,0.0003825619],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000314082,"about_ca_system_score_gemma":0.0002265275,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009848216,"about_ca_topic_score_gemma":0.001530983,"domain_scores_codex":[0.999909,0.000007504295,0.00001498349,0.00002134723,0.00003264913,0.00001443445],"domain_scores_gemma":[0.9998989,0.000009121584,0.00004439262,0.00001054972,0.000008842047,0.00002829455],"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":[0.000038946,0.000003826587,0.0003132028,0.00001912567,0.000004858442,0.0001945023,0.000005559183,0.00007369629,0.9987897,0.00004415917,0.00001320699,0.0004992091],"study_design_scores_gemma":[0.00001748498,0.00008326031,0.02065648,0.00001182296,0.0000314325,0.002711891,0.0000409671,0.0008773799,0.9709929,0.00009164987,0.004474477,0.00001026768],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962101,0.001278903,0.001215887,0.00004436277,0.00001045421,0.00001110411,0.0006383722,0.00005196019,0.0005388599],"genre_scores_gemma":[0.9957435,0.0007462262,0.001354464,0.0000227895,0.000003397421,0.00002773271,0.0009316168,0.00002473432,0.001145475],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0009848216,"threshold_uncertainty_score":0.002706945,"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."}}