{"id":"W2976552964","doi":"10.1038/s41588-019-0498-4","title":"Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome","year":2019,"lang":"en","type":"article","venue":"Nature Genetics","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":45,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill Genome Centre; Montreal Children's Hospital; McGill University; McGill University Health Centre","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; Canadian Institutes of Health Research; Agence Nationale de la Recherche","keywords":"Biology; Hypopigmentation; RHOA; Genetics; Mutation; Gene","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":[0.0001139131,0.0007473607,0.0002717688,0.0007449746,0.0003396384,0.0002603239,0.0003245791,0.0007645302,0.001852964],"category_scores_gemma":[0.0004243161,0.0002897534,0.0002431737,0.0003578334,0.000620138,0.0001925511,0.0005264911,0.0007522406,0.000560461],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001792799,"about_ca_system_score_gemma":0.0002873687,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000488582,"about_ca_topic_score_gemma":0.0009987311,"domain_scores_codex":[0.9998274,0.00002568932,0.0000221296,0.00003405201,0.00006448662,0.0000261691],"domain_scores_gemma":[0.9996359,0.0001016083,0.0001130185,0.00003056665,0.00001345387,0.0001054877],"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":[0.0004993285,0.00008101535,0.006476409,0.00004612798,0.00004893441,0.03823247,0.0001873718,0.0003295483,0.9456169,0.002452503,0.0003097966,0.00571961],"study_design_scores_gemma":[0.0002604144,0.0007589682,0.1918033,0.0000281042,0.0002736485,0.2523977,0.000420473,0.004777982,0.5376084,0.001964842,0.009648053,0.00005803017],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9946272,0.0003468702,0.002233468,0.0001156771,0.0000308606,0.00001959135,0.0001640446,0.00009271473,0.002369673],"genre_scores_gemma":[0.9964316,0.000209501,0.001362084,0.00003048535,0.00002114229,0.00001085685,0.00009058173,0.00003542147,0.001808321],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001852964,"threshold_uncertainty_score":0.006198764,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005593748504071647,"score_gpt":0.2500484490332383,"score_spread":0.2444547005291667,"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."}}