{"id":"W1972528076","doi":"10.1016/j.ajhg.2011.04.013","title":"Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies","year":2011,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Skin and Cellular Biology Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":119,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University","funders":"National Institute of Dental and Craniofacial Research; Canadian Institutes of Health Research; National Institute for Health and Care Research; British Heart Foundation; Wellcome Trust","keywords":"CDC42; Biology; RAC1; Cell biology; Genetics; Actin cytoskeleton; GTPase; Cytoskeleton; Signal transduction; Cell","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":[0.0003285876,0.0001170565,0.0002567528,0.00009992171,0.00008531872,0.000006917924,0.0002543456,0.00005423299,0.00002341798],"category_scores_gemma":[0.00004559433,0.00008733646,0.0001091357,0.0001087578,0.001103933,0.000003187921,0.00008911853,0.0001278791,0.000001088481],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007031622,"about_ca_system_score_gemma":0.00008078974,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001719161,"about_ca_topic_score_gemma":0.00001307087,"domain_scores_codex":[0.9990054,0.000190666,0.000382561,0.0001309271,0.0001257081,0.0001647805],"domain_scores_gemma":[0.9988141,0.00003069378,0.0005625308,0.0003091265,0.0002054907,0.00007807927],"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":[0.0005192999,0.0001313015,0.02111772,0.0000200508,0.0003868756,0.00002412412,0.0006897451,0.0000213128,0.9738401,0.0001939775,0.0001752134,0.002880256],"study_design_scores_gemma":[0.001022071,0.01372751,0.157009,0.00005347235,0.0003987574,0.00174678,0.002569525,0.00004564246,0.8213772,0.001369498,0.0004057367,0.0002749008],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971087,0.002249771,0.0003233205,0.0000324236,0.00005246231,0.00008129363,0.000009396492,0.000001792024,0.0001408367],"genre_scores_gemma":[0.9982844,0.0008040309,0.0006668027,0.00003189632,0.00007552956,0.000002056528,0.000008620767,0.00001623241,0.0001104104],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.152463,"threshold_uncertainty_score":0.4067489,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02519908395809158,"score_gpt":0.277119213128887,"score_spread":0.2519201291707955,"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."}}