{"id":"W4281256690","doi":"10.1136/jmedgenet-2022-108483","title":"Gain-of-function p.F28S variant in <i>RAC3</i> disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder","year":2022,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":29,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"Japan Society for the Promotion of Science","keywords":"Biology; Corticogenesis; RHOA; Cell biology; Actin cytoskeleton; GTPase; Neuroscience; Axon guidance; Small GTPase; Signal transduction; Genetics; Cytoskeleton; Axon; Gene; Cell; Embryonic stem cell","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":[0.0001281491,0.0009006105,0.0003857496,0.0003196945,0.0003809798,0.0002526418,0.0004088532,0.000733296,0.003405772],"category_scores_gemma":[0.0002419342,0.0001569324,0.0005404112,0.0001668528,0.0005915618,0.0001271967,0.0003069958,0.0008966762,0.0008922789],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000377924,"about_ca_system_score_gemma":0.0003454819,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002185662,"about_ca_topic_score_gemma":0.002415629,"domain_scores_codex":[0.999799,0.00003108649,0.0000334169,0.00005107446,0.00005318547,0.00003235728],"domain_scores_gemma":[0.999805,0.00004841005,0.00005783734,0.00001530609,0.00001291296,0.00006059336],"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":[0.0002805211,0.00009580625,0.0009995321,0.00005399679,0.00004212367,0.009653958,0.00004312042,0.0003717955,0.9846569,0.0004630807,0.0004148049,0.002924252],"study_design_scores_gemma":[0.000214176,0.0008896809,0.03717204,0.00006387523,0.0001936163,0.060669,0.000180137,0.008308084,0.8756669,0.0007823288,0.01579379,0.00006628754],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9895504,0.0005368372,0.004509176,0.0003969689,0.0001557767,0.000078376,0.001833103,0.0003279684,0.002611282],"genre_scores_gemma":[0.9953929,0.0002367802,0.001711391,0.000134084,0.00003262035,0.00003499606,0.0006422563,0.00008977465,0.001725227],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003405772,"threshold_uncertainty_score":0.01139349,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008400065854970747,"score_gpt":0.2350938059683449,"score_spread":0.2266937401133742,"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."}}