{"id":"W6939557398","doi":"10.60692/yba55-wy292","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":"Cellular transport and secretion","field":"Biochemistry, Genetics and Molecular Biology","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001171203,0.001130651,0.0002480099,0.000818846,0.0002560098,0.0003160528,0.0002517966,0.0005512367,0.003909172],"category_scores_gemma":[0.0002514556,0.0002845226,0.0002166302,0.0003369629,0.0004408882,0.0001383064,0.0005209298,0.0004857463,0.0008062146],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001756869,"about_ca_system_score_gemma":0.0002829465,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001526179,"about_ca_topic_score_gemma":0.002148498,"domain_scores_codex":[0.9997965,0.00002382128,0.00002302518,0.00008578454,0.0000481226,0.00002276411],"domain_scores_gemma":[0.9998504,0.00002766677,0.0000641579,0.00001417624,0.000008304181,0.00003522476],"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":[0.0003017405,0.00004691867,0.003264808,0.00008000957,0.00007094427,0.006629562,0.00007596596,0.0001755643,0.9828198,0.0004153351,0.0003247104,0.005794611],"study_design_scores_gemma":[0.0002157599,0.001346328,0.2317537,0.0001562059,0.0006890537,0.2210798,0.0004373313,0.005506216,0.512956,0.001372993,0.0243626,0.0001241715],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9863834,0.001208085,0.00775858,0.0002119579,0.0000363197,0.00005295522,0.002025496,0.0003825402,0.001940615],"genre_scores_gemma":[0.9900148,0.00108606,0.00481476,0.0001238843,0.0000204083,0.00005327705,0.001386476,0.000094762,0.002405675],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003909172,"threshold_uncertainty_score":0.0130775,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0149013509329104,"score_gpt":0.1943052085592219,"score_spread":0.1794038576263115,"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."}}