{"id":"W2111610386","doi":"10.1002/ajmg.a.33873","title":"PTPN11 gene mutation associated with abnormal gonadal determination","year":2011,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Protein Tyrosine Phosphatases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto; SickKids Foundation; Mount Sinai Hospital","funders":"","keywords":"PTPN11; Hydrops fetalis; Noonan syndrome; Germline mutation; Germline; Mutation; Biology; Germline mosaicism; Autopsy; Fetus; Genetics; Somatic cell; Gene; Pathology; Medicine; KRAS; Pregnancy","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":[0.0001015725,0.0006136221,0.0002484043,0.0007356661,0.0004263515,0.000267667,0.0002863439,0.0007742529,0.001996055],"category_scores_gemma":[0.00080186,0.0002347642,0.0002299369,0.0003663537,0.0007222095,0.0002104931,0.0003646375,0.0006042934,0.0002688942],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003126254,"about_ca_system_score_gemma":0.0003349076,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001482748,"about_ca_topic_score_gemma":0.001431257,"domain_scores_codex":[0.9998468,0.00001803635,0.00001472258,0.00004874067,0.00003632466,0.00003522178],"domain_scores_gemma":[0.9996196,0.0001128506,0.00009624776,0.00002994169,0.00002172775,0.0001196374],"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":[0.0001329325,0.00003934331,0.03400513,0.00005046725,0.00002459781,0.9262682,0.0002354916,0.0001791059,0.03419901,0.0005561394,0.0004571407,0.003852454],"study_design_scores_gemma":[0.00003694147,0.0001323728,0.06294934,0.00001263254,0.00003787667,0.9253872,0.00008631102,0.0004571467,0.009062284,0.0003004706,0.001519141,0.00001830514],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9942276,0.0004552902,0.0006899746,0.0002822015,0.00005571072,0.00001808383,0.0001842945,0.00004544198,0.004041416],"genre_scores_gemma":[0.9983087,0.000287528,0.0002620221,0.00005054508,0.00004191977,0.00000396624,0.00008296799,0.000008248904,0.0009542301],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001996055,"threshold_uncertainty_score":0.006677508,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01303568941651895,"score_gpt":0.2507591896433021,"score_spread":0.2377235002267832,"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."}}