{"id":"W2088432483","doi":"10.1002/humu.1241","title":"Identification and characterization of four novel large deletions in the human neurofibromatosis type 1 (NF1) gene","year":2001,"lang":"en","type":"article","venue":"Human Mutation","topic":"Neurofibromatosis and Schwannoma Cases","field":"Medicine","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Sherbrooke","funders":"Institut National de la Santé et de la Recherche Médicale","keywords":"Breakpoint; Biology; Exon; Loss of heterozygosity; Genetics; Southern blot; Gene; Molecular biology; Allele; Chromosomal translocation","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002142155,0.0000873599,0.0001375783,0.000165927,0.0001551528,0.00002954997,0.00005244098,0.00004436832,0.00002914532],"category_scores_gemma":[0.00003617329,0.00007414044,0.00003212223,0.0003060225,0.00003405259,0.0001521244,0.00001348518,0.00007160417,0.00000645702],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001359698,"about_ca_system_score_gemma":0.00001338806,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001724571,"about_ca_topic_score_gemma":0.00001445479,"domain_scores_codex":[0.9991053,0.00006404249,0.000355312,0.0001773804,0.0001866697,0.0001113123],"domain_scores_gemma":[0.9994746,0.0000278215,0.0001695407,0.0001980479,0.0001014211,0.00002851052],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00001662983,0.0001680596,0.03258497,0.00004332175,0.000005985737,0.00001973257,0.0004513981,0.000001365931,0.9641134,0.002443051,0.00002455112,0.0001275254],"study_design_scores_gemma":[0.0007149271,0.0001652343,0.972178,0.00004162487,0.00004619542,0.0002702631,0.0001119369,0.0002184162,0.02588981,0.0001605591,0.0001377889,0.00006528102],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998578,0.00001920606,0.0004822716,0.000321876,0.00004060149,0.0003421133,0.00001450791,0.00002541496,0.0001759731],"genre_scores_gemma":[0.9992087,0.0000199789,0.00005503349,0.0001427034,0.00005114654,0.000021961,0.0003901628,0.00001500581,0.00009526325],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.939593,"threshold_uncertainty_score":0.3023359,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04358329506385833,"score_gpt":0.2966773594492216,"score_spread":0.2530940643853632,"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."}}