{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0003193704,0.0003899252,0.0003923668,0.0003596421,0.0001910011,0.00006619145,0.0002628235,0.0002931905,0.00005104221],"category_scores_gemma":[0.00004747254,0.0004239326,0.0002604425,0.0004854357,0.0001157466,0.00002986137,0.0002169565,0.0002466716,0.00003136066],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001325628,"about_ca_system_score_gemma":0.0003001722,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002728203,"about_ca_topic_score_gemma":0.0001149331,"domain_scores_codex":[0.9978504,0.00003900976,0.0003788021,0.0008437577,0.0002240985,0.0006639105],"domain_scores_gemma":[0.9992192,0.00005663494,0.0001023144,0.000361476,0.00009452808,0.0001658955],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001379919,0.00114474,0.04562468,0.003297608,0.001559713,0.1056135,0.01068622,0.004588349,0.7800864,0.005639791,0.0385476,0.001831417],"study_design_scores_gemma":[0.01977773,0.01032343,0.05810248,0.002795767,0.002041041,0.01214142,0.02207623,0.02509362,0.3707611,0.002362763,0.463774,0.01075045],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9929858,0.001705763,0.00267085,0.0001472309,0.0004914007,0.0004850449,0.0001527179,0.00007401345,0.00128711],"genre_scores_gemma":[0.9939499,0.00003664383,0.001051656,0.0001321809,0.0001170932,0.00001740674,0.0003383105,0.00008937824,0.0042674],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4252264,"threshold_uncertainty_score":0.9998212,"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."}}