{"id":"W3137005460","doi":"10.1016/j.jdcr.2021.03.022","title":"LEPOARD syndrome: A report of a case with a novel PTPN11 mutation","year":2021,"lang":"en","type":"article","venue":"JAAD Case Reports","topic":"Protein Tyrosine Phosphatases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto","funders":"","keywords":"Medicine; PTPN11; Dermatology; Mutation; Cancer research; Internal medicine; Genetics; KRAS; Colorectal cancer; Cancer; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002545742,0.0001699079,0.0002357034,0.00003754568,0.00006361035,0.00002086312,0.00002623809,0.0001148549,0.00002260799],"category_scores_gemma":[0.0004642029,0.0001578416,0.00009540626,0.0001928069,0.00007697164,0.00000793667,0.00009775559,0.00007428491,7.22528e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000189326,"about_ca_system_score_gemma":0.0004232054,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004322776,"about_ca_topic_score_gemma":0.0003220312,"domain_scores_codex":[0.9985207,0.0000293969,0.0005139053,0.0005368878,0.0002027472,0.0001964051],"domain_scores_gemma":[0.9981682,0.00001191266,0.0004870179,0.0008782595,0.0003511702,0.0001034844],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00003556504,0.0001294942,0.0005812065,0.00006654963,0.0001076021,0.9196481,0.00002247535,0.00005356438,0.07851054,0.00004555784,0.0003309285,0.0004684044],"study_design_scores_gemma":[0.0002027111,0.0001408221,0.0001091672,0.00002740388,0.0000553767,0.5605831,0.00006637688,0.000005745865,0.4366001,0.00001449675,0.002082376,0.0001123373],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9912096,0.003193913,0.004817509,0.00006580827,0.0001078201,0.0002699282,0.00007236536,0.00001899961,0.0002440689],"genre_scores_gemma":[0.9914343,0.00001124316,0.007503399,0.00005310951,0.00004774255,0.00006739995,0.0004355534,0.00003038185,0.0004168682],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3590651,"threshold_uncertainty_score":0.6436592,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009288057282254696,"score_gpt":0.2487562215461192,"score_spread":0.2394681642638645,"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."}}