{"id":"W2807668894","doi":"10.1002/ccr3.1595","title":"An <i> <scp>ANKRD</scp> 26 </i> nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome)","year":2018,"lang":"en","type":"article","venue":"Clinical Case Reports","topic":"Genital Health and Disease","field":"Medicine","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; SickKids Foundation; Hospital for Sick Children","funders":"Government of Ontario; Genome Canada; Ontario Genomics; Mohammed Bin Rashid University of Medicine and Health Sciences; Al Jalila Foundation; Ontario Genomics Institute","keywords":"Epidermodysplasia verruciformis; Nonsense mutation; Genodermatosis; Medicine; Somatic cell; Nonsense; Malignancy; Dermatology; Girl; Germline mutation; Mutation; Human papillomavirus; Gene; Genetics; Pathology; Internal medicine; Biology; Missense mutation","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":[0.0001183039,0.0008342198,0.0004006583,0.0007996007,0.0007442144,0.0004865978,0.0003589003,0.001463589,0.004093867],"category_scores_gemma":[0.0006907086,0.0003560939,0.0004043479,0.000392432,0.0007116314,0.0005844599,0.0004649074,0.0008588588,0.0006228995],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002984517,"about_ca_system_score_gemma":0.0002887661,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001305567,"about_ca_topic_score_gemma":0.001271607,"domain_scores_codex":[0.9998341,0.00001746691,0.00001898212,0.00005200364,0.00002563655,0.00005180623],"domain_scores_gemma":[0.9996332,0.00009053508,0.0001071286,0.00001652339,0.00001964677,0.0001329616],"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":[0.0000213947,0.00001130919,0.009200304,0.00001965486,0.000004255374,0.9858201,0.00008600442,0.00003483486,0.003794858,0.00009788405,0.0002159731,0.0006934644],"study_design_scores_gemma":[0.000005542787,0.00005246552,0.007876428,0.00000678482,0.000008653918,0.9902602,0.00008554031,0.00007573112,0.0009161007,0.00006003562,0.0006471532,0.000005317215],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9872984,0.001369274,0.00100344,0.001051141,0.0001268229,0.00006260251,0.0002911305,0.0001050715,0.008692178],"genre_scores_gemma":[0.9977432,0.0003546698,0.0003994612,0.0001699781,0.00009521112,0.000005656055,0.00005438144,0.00001373284,0.001163739],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004093867,"threshold_uncertainty_score":0.0136953,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04355028103347004,"score_gpt":0.3772645362816971,"score_spread":0.3337142552482271,"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."}}