{"id":"W4410745157","doi":"10.1002/ajmg.a.64119","title":"Truncating Variants in <scp><i>RREB1</i></scp> Cause a Novel <scp>RASopathy</scp> Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay","year":2025,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Protein Tyrosine Phosphatases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"National Institutes of Health","keywords":"Haploinsufficiency; Phenotype; Genitourinary system; FLNA; Costello syndrome; Noonan syndrome; Disease; Biology; Heart disease; Genetics; Cancer research; Mutation; Medicine; Internal medicine; Gene","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":[0.0001112621,0.0009227915,0.0003429142,0.0009116734,0.0005484528,0.0003530557,0.0002983778,0.0005473882,0.001976621],"category_scores_gemma":[0.0005650487,0.0001631148,0.0003285552,0.0004151814,0.0004260768,0.00016607,0.0005162925,0.0004374841,0.0003309699],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001771707,"about_ca_system_score_gemma":0.0001549172,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001312655,"about_ca_topic_score_gemma":0.001647603,"domain_scores_codex":[0.9998143,0.00001439063,0.00001766513,0.00006206436,0.00005523836,0.00003640644],"domain_scores_gemma":[0.9997512,0.0000583721,0.00006842096,0.0000178451,0.00002096751,0.00008327802],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0003997171,0.0001879678,0.3186727,0.0000763516,0.000147311,0.398848,0.001785128,0.0006077823,0.2529636,0.0009580698,0.0008817419,0.02447163],"study_design_scores_gemma":[0.00003513421,0.0003326026,0.3586621,0.00002622149,0.0001047029,0.6117503,0.0003859671,0.001008625,0.02390971,0.0003428835,0.003405582,0.00003611578],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980451,0.0001742146,0.0005515713,0.00006433436,0.000007577371,0.00001313736,0.0001828543,0.00002503691,0.000936063],"genre_scores_gemma":[0.9986817,0.00008537151,0.0004877854,0.000027188,0.00001453703,0.000005355361,0.0001429252,0.00001045745,0.0005446548],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001976621,"threshold_uncertainty_score":0.00661242,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00931085143693909,"score_gpt":0.2581624133199108,"score_spread":0.2488515618829717,"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."}}