{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001316009,0.001202269,0.0003082996,0.0009416676,0.0002992584,0.0003209824,0.0003379559,0.0006930769,0.002849244],"category_scores_gemma":[0.0002637531,0.0003492176,0.0002695218,0.0004623386,0.0005921955,0.0001445879,0.0006657724,0.0005650222,0.0006257658],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001998682,"about_ca_system_score_gemma":0.0003313762,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001709599,"about_ca_topic_score_gemma":0.002591295,"domain_scores_codex":[0.9997401,0.00002950089,0.00003003304,0.0001100949,0.00006115053,0.00002917761],"domain_scores_gemma":[0.9997821,0.00003956905,0.00009765633,0.00001852645,0.00001012729,0.00005197694],"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":[0.0003705179,0.00005050565,0.003318768,0.00009617882,0.00009840736,0.01013283,0.0000860826,0.0002713406,0.9788135,0.0005272399,0.0003530407,0.005881588],"study_design_scores_gemma":[0.0002368529,0.001326292,0.2163806,0.0001612591,0.0007311114,0.2791455,0.0005316089,0.005396585,0.4743134,0.001455184,0.02017351,0.0001482199],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9835929,0.001677697,0.008989977,0.0002507102,0.00004968933,0.00008631505,0.002727884,0.0004500251,0.002174868],"genre_scores_gemma":[0.9887988,0.001414883,0.005987189,0.0001531592,0.00002412047,0.00007206689,0.001506669,0.0001253432,0.001917802],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002849244,"threshold_uncertainty_score":0.009531677,"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."}}