{"id":"W1995338672","doi":"10.1038/ng916","title":"Mutations in SUFU predispose to medulloblastoma","year":2002,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Hedgehog Signaling Pathway Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":799,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; Princess Margaret Cancer Centre; Ontario Institute for Cancer Research; University of Toronto","funders":"","keywords":"Smoothened; Biology; Patched; Hedgehog signaling pathway; Sonic hedgehog; Cancer research; Germline; Medulloblastoma; GLI1; PTCH1; GLI2; Hedgehog; Genetics; Tumor suppressor gene; Transcription factor; Germline mutation; Loss of heterozygosity; Signal transduction; Mutation; Gene; Carcinogenesis; Allele","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":[0.0002451581,0.0008387807,0.0004971296,0.003110336,0.0006308724,0.0003143555,0.0005709396,0.0008853961,0.005971861],"category_scores_gemma":[0.001194091,0.0004451544,0.00049156,0.001031531,0.0009406248,0.0003925975,0.0006324711,0.0006915629,0.0003922666],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002768322,"about_ca_system_score_gemma":0.0002117983,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001868973,"about_ca_topic_score_gemma":0.002086154,"domain_scores_codex":[0.9997116,0.00007961012,0.00003078586,0.00005377108,0.00007003032,0.00005414673],"domain_scores_gemma":[0.9989374,0.0004768732,0.0002584449,0.00008179755,0.00003478714,0.0002107627],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.002782973,0.0002729267,0.05775199,0.0001440981,0.0003079303,0.05003874,0.0009881575,0.001206901,0.8690531,0.004738438,0.000559793,0.01215492],"study_design_scores_gemma":[0.0002011593,0.00151486,0.4645823,0.00006785641,0.0006165685,0.1542822,0.001305336,0.004526835,0.3581317,0.004473672,0.01013702,0.0001605528],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.994975,0.0006500071,0.001421305,0.0001419897,0.00005324817,0.0000172758,0.0002407914,0.00009715917,0.00240326],"genre_scores_gemma":[0.9989655,0.0001407824,0.0003365287,0.00001243048,0.00001602922,0.000004621032,0.00005844761,0.00001490535,0.0004506163],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005971861,"threshold_uncertainty_score":0.01997781,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01055282333795032,"score_gpt":0.2606529530195036,"score_spread":0.2501001296815533,"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."}}