{"id":"W2472098090","doi":"10.1111/bjd.14873","title":"Mosaicism for a <i>SPRED1</i> deletion revealed in a patient with clinically suspected mosaic neurofibromatosis","year":2016,"lang":"en","type":"letter","venue":"British Journal of Dermatology","topic":"Neurofibromatosis and Schwannoma Cases","field":"Medicine","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children; SickKids Foundation","funders":"Children's Tumor Foundation","keywords":"Neurofibromatosis; Medicine; Neurofibromatoses; Dermatology; Pathology","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":[0.0002602653,0.0009559782,0.0004962696,0.001151294,0.001311888,0.0008007845,0.0006100121,0.003111714,0.002672147],"category_scores_gemma":[0.002061143,0.0004404887,0.0004124117,0.0006070718,0.001127081,0.0007012452,0.0006561424,0.001476252,0.000674699],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007242265,"about_ca_system_score_gemma":0.0003658119,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001973259,"about_ca_topic_score_gemma":0.002052016,"domain_scores_codex":[0.9996308,0.00004546426,0.00003176988,0.0001203648,0.00007435854,0.00009715566],"domain_scores_gemma":[0.9992256,0.0003590283,0.00009871151,0.00005545501,0.00005956919,0.00020157],"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":[0.00007667449,0.00002215057,0.007352956,0.00002484985,0.000004991877,0.9842376,0.0003331411,0.00007133937,0.00504104,0.0003852196,0.0005149518,0.001934979],"study_design_scores_gemma":[0.00001222361,0.0001137145,0.008544968,0.00001413775,0.00001200648,0.9881461,0.0001470245,0.0002954169,0.001069151,0.0003379546,0.001295518,0.00001191745],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9674287,0.0019941,0.001870186,0.006768408,0.0003614925,0.0001064313,0.0003086208,0.0001602843,0.02100163],"genre_scores_gemma":[0.9963063,0.0004911097,0.0006998463,0.0005586623,0.0002365477,0.00001188294,0.00004643675,0.00001372671,0.001635546],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003111714,"threshold_uncertainty_score":0.008939207,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01335027261471909,"score_gpt":0.249494022392798,"score_spread":0.2361437497780789,"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."}}