{"id":"W4394573611","doi":"10.3389/fnmol.2024.1268013","title":"Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders","year":2024,"lang":"en","type":"article","venue":"Frontiers in Molecular Neuroscience","topic":"Cellular transport and secretion","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; McGill University; SickKids Foundation; Montreal Neurological Institute and Hospital; Hospital for Sick Children","funders":"Ministero dell’Istruzione, dell’Università e della Ricerca; National Institute of Neurological Disorders and Stroke; Ministero della Salute","keywords":"Biology; Neurodegeneration; Genetics; Phenotype; Gene; Missense mutation; Disease; Medicine","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":[0.0002014099,0.0001447468,0.0001109174,0.000146352,0.00004916414,0.00005061966,0.0001623914,0.00009470122,0.000001366765],"category_scores_gemma":[0.00002282914,0.0001582878,0.0000392953,0.000309788,0.000145712,0.00001694662,0.00006683575,0.0001713054,9.559195e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001685024,"about_ca_system_score_gemma":0.000045359,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002399505,"about_ca_topic_score_gemma":0.0000698351,"domain_scores_codex":[0.9987126,0.0000576197,0.000220619,0.0005806228,0.0001423906,0.0002861691],"domain_scores_gemma":[0.9997556,0.000003173121,0.00002127325,0.0001500354,0.000004696914,0.00006517785],"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":[0.00002242161,0.00002903001,0.06382758,0.00001906581,0.000002997967,0.0001303063,0.00007812707,0.000770935,0.9321581,0.0000263484,0.00002707589,0.002908085],"study_design_scores_gemma":[0.001946493,0.0004988987,0.6327761,0.0001411674,0.00002664101,0.0001555003,0.0001698637,0.07005625,0.245285,0.0008234735,0.04682621,0.001294384],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9646292,0.002150827,0.03212075,0.0001174944,0.0006847368,0.0001598972,0.000004123411,0.00001862762,0.000114317],"genre_scores_gemma":[0.9978825,0.0008343508,0.0008495922,0.000247877,0.000009651703,0.00001003371,0.0001119494,0.00001964166,0.00003437749],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.686873,"threshold_uncertainty_score":0.645479,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005011439365254176,"score_gpt":0.2154405133026734,"score_spread":0.2104290739374193,"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."}}