{"id":"W4220987412","doi":"10.1371/journal.pgen.1010114","title":"Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice","year":2022,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":21,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Concordia University","funders":"CHIST-ERA; Natural Sciences and Engineering Research Council of Canada; Agence Nationale de la Recherche; Newlife – The Charity for Disabled Children; Canadian Institutes of Health Research; Mitacs; National Institute for Health and Care Research; Newlife the Charity for Disabled Children; Wellcome Trust; Wellcome","keywords":"Biology; Microcephaly; Phenotype; Knockout mouse; Mutant; Signal transducing adaptor protein; Neurodevelopmental disorder; Cell biology; Gene knockin; Gene; Mutation; Genetics; Neuroscience","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001135771,0.0001958648,0.0001677107,0.0001446751,0.000100337,0.00001978811,0.0002276083,0.00007695783,0.00003656729],"category_scores_gemma":[0.00001250244,0.0002372868,0.00003726586,0.0002392683,0.00005262228,0.000002071768,0.0002707541,0.0001680288,0.000002484798],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000194584,"about_ca_system_score_gemma":0.00006868946,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000279127,"about_ca_topic_score_gemma":0.001040461,"domain_scores_codex":[0.9986128,0.00009841994,0.0002882273,0.0005001468,0.0001589183,0.0003414392],"domain_scores_gemma":[0.9996474,0.000006381435,0.00005061277,0.0002216071,0.00001514666,0.00005881129],"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":[0.00006731371,0.0005841683,0.06024547,0.00003275057,0.00002926019,0.00002785743,0.000888003,0.0007954089,0.9356494,0.0000100187,0.0002217766,0.001448584],"study_design_scores_gemma":[0.01036946,0.002081223,0.7868329,0.00004532588,0.00009288736,0.0001012419,0.003901825,0.003860615,0.1379807,0.000598505,0.05187039,0.002264899],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958416,0.00336684,0.00001322138,0.000150554,0.0000706785,0.0003246591,0.00003490234,0.000006550459,0.0001910011],"genre_scores_gemma":[0.9970824,0.001790887,0.0002246949,0.0005462217,0.00001334201,0.0001061185,0.00007660464,0.00004179167,0.0001179399],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7976687,"threshold_uncertainty_score":0.9676275,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01464192572485253,"score_gpt":0.2246699221223455,"score_spread":0.2100279963974929,"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."}}