{"id":"W4412224336","doi":"","title":"Mosaicism for a variant in PTCH1 causing Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)","year":2024,"lang":"en","type":"article","venue":"VBN Forskningsportal (Aalborg Universitet)","topic":"Hedgehog Signaling Pathway Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Institute of Infection and Immunity; Genome Institute of Singapore; Centre National de la Recherche Scientifique; Duke-NUS Medical School; Lietuvos Mokslo Taryba; Vetenskapsrådet; University of Pittsburgh; University of Hong Kong; Fondazione Bruno Kessler; Euskal Herriko Unibertsitatea; Universidad de Granada; ZonMw; University of Melbourne; Helsingin Yliopisto; University of California, Los Angeles; Centro Pfizer-Universidad de Granada-Junta de Andalucía de Genómica e Investigación Oncológic; Vanda Pharmaceuticals; School of Public Health, University of Michigan; Singapore Eye Research Institute; Albert-Ludwigs-Universität Freiburg; Emory University; National University of Singapore; Ministrstvo za Izobraževanje, Znanost in Šport; Narodowym Centrum Nauki; European Regional Development Fund; Bundesministerium für Bildung und Forschung; Universitat Pompeu Fabra; Institut National de la Santé et de la Recherche Médicale; National University Health System; Indian National Science Academy; Agency for Science, Technology and Research","keywords":"Nevoid basal-cell carcinoma syndrome; PTCH1; Basal Cell Nevus Syndrome; Biology; Medicine; Pathology; Basal cell carcinoma; Genetics; Basal cell; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001815044,0.000883662,0.0004190499,0.001432137,0.0007090505,0.0004011658,0.0005245871,0.001225816,0.005613211],"category_scores_gemma":[0.0009130551,0.0002978372,0.0003790382,0.0005979842,0.0007634196,0.0002924078,0.000607007,0.000541867,0.0005323694],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003492413,"about_ca_system_score_gemma":0.0003382413,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002917561,"about_ca_topic_score_gemma":0.002560252,"domain_scores_codex":[0.9997098,0.00003473752,0.00002702777,0.0000744101,0.00008774394,0.00006628592],"domain_scores_gemma":[0.9994967,0.0001970181,0.000103864,0.00002825211,0.00002585525,0.0001483192],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.0008938644,0.0001105279,0.02293814,0.0001206083,0.00009713652,0.4557013,0.001001356,0.0003519859,0.5118248,0.001293625,0.0003828135,0.005283839],"study_design_scores_gemma":[0.00009957389,0.0005610299,0.1390733,0.00002933635,0.0002362156,0.7550467,0.0006298115,0.00172827,0.09809399,0.0007835351,0.003653769,0.00006449134],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9959927,0.000251506,0.00062933,0.0001357595,0.00002413269,0.00002945134,0.0002858672,0.0000521375,0.002599132],"genre_scores_gemma":[0.9987372,0.00005768615,0.000397037,0.00002497083,0.000009488982,0.000007997568,0.00009396036,0.00001551785,0.0006561706],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005613211,"threshold_uncertainty_score":0.01877803,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008617930859396212,"score_gpt":0.2160109330993107,"score_spread":0.2073930022399145,"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."}}