{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001320632,0.0002622007,0.0006513923,0.0001635526,0.0001379839,0.00002706179,0.00004158895,0.0002371765,0.00005377964],"category_scores_gemma":[0.002463364,0.0002115543,0.0001562807,0.0003621175,0.0002968644,0.0001905324,0.00003082091,0.0003529261,0.0001911969],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008343981,"about_ca_system_score_gemma":0.0007718687,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002349659,"about_ca_topic_score_gemma":0.0005877976,"domain_scores_codex":[0.9965656,0.0001919605,0.001563427,0.0007038204,0.0004070341,0.0005681869],"domain_scores_gemma":[0.9962757,0.000603964,0.0004793204,0.0009663322,0.0002283961,0.001446301],"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":[0.0002841812,0.001079258,0.2342061,0.0004617529,0.000021347,0.7591705,0.0003525777,0.000003731255,0.00001702214,0.000004923264,0.0004643399,0.003934263],"study_design_scores_gemma":[0.002725358,0.00465756,0.4130451,0.0002586502,0.000238471,0.5756357,0.0007447245,0.001595146,0.0001001263,0.0004372264,0.000420732,0.0001411928],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995405,0.0001151978,0.00008811851,0.0001744459,0.0002978641,0.0009549781,0.000007034636,0.0001691937,0.002788197],"genre_scores_gemma":[0.9962865,0.000004541407,0.00146712,0.001523598,0.0002325026,0.00005884676,0.00005427002,0.00005886104,0.000313818],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1835348,"threshold_uncertainty_score":0.8626936,"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."}}