{"id":"W2119505302","doi":"10.1136/jmg.2005.031997","title":"Disruption of an exon splicing enhancer in exon 3 of <i>MLH1</i> is the cause of HNPCC in a Quebec family","year":2005,"lang":"en","type":"letter","venue":"Journal of Medical Genetics","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":29,"is_retracted":false,"has_abstract":true,"ca_institutions":"Jewish General Hospital; McGill University","funders":"Cancer Research Society","keywords":"Exon; Exon trapping; Splice site mutation; RNA splicing; Biology; Exonic splicing enhancer; Exon skipping; Genetics; Molecular biology; Minigene; Exon shuffling; Intron; Nonsense mutation; Tandem exon duplication; Alternative splicing; Missense mutation; Mutation; Gene; RNA","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.00009092232,0.0003773916,0.0001736375,0.00030408,0.0005786935,0.000153954,0.0002578188,0.0004615561,0.003240125],"category_scores_gemma":[0.0002414054,0.00007997079,0.0002750616,0.0001855289,0.0003631212,0.00006581178,0.0001219969,0.0005949498,0.000516045],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001419513,"about_ca_system_score_gemma":0.001000218,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.1040865,"about_ca_topic_score_gemma":0.188697,"domain_scores_codex":[0.9999208,0.000007585157,0.000003988559,0.00002206696,0.00002980272,0.00001578879],"domain_scores_gemma":[0.9998604,0.00003551524,0.00004515641,0.000008575465,0.00001833014,0.00003192315],"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":[0.0003253543,0.0001366183,0.03460164,0.0001048392,0.00004853859,0.01407194,0.0002924174,0.0006197328,0.9274083,0.0006354488,0.001137352,0.02061772],"study_design_scores_gemma":[0.0001707231,0.0004714896,0.546155,0.0001174475,0.0002181907,0.04620411,0.0003760058,0.006120496,0.3735746,0.0004628339,0.02604087,0.00008821881],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9942123,0.0002617682,0.002283031,0.0002346813,0.00003271889,0.00004363677,0.000575303,0.0001148975,0.002241659],"genre_scores_gemma":[0.994491,0.0001568469,0.002619459,0.0001463784,0.0000133164,0.00002121604,0.0005681391,0.0000276009,0.001956045],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8959135,"threshold_uncertainty_score":0.2069612,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02021360708133473,"score_gpt":0.3235407852748156,"score_spread":0.3033271781934809,"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."}}