{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001374794,0.0001993747,0.0005825732,0.0002279626,0.00001385898,0.00001057262,0.0007218747,0.0008439786,0.00003485253],"category_scores_gemma":[0.0002884984,0.000140988,0.0002041286,0.0001880107,0.0002430929,0.000007284826,0.0001410727,0.001293007,4.287557e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005566319,"about_ca_system_score_gemma":0.0006556934,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001685868,"about_ca_topic_score_gemma":0.004357537,"domain_scores_codex":[0.9964817,0.0002917482,0.001266343,0.0002127963,0.001419801,0.000327673],"domain_scores_gemma":[0.9983364,0.00008704368,0.0008087726,0.0004027507,0.0002419535,0.0001230225],"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":[0.0003296238,0.0003067191,0.002635676,0.0005036954,0.0001655556,0.0003022052,0.0006034606,0.0004096244,0.9042318,0.000001964558,0.05085741,0.03965228],"study_design_scores_gemma":[0.00583073,0.003677923,0.02492361,0.004355448,0.00023434,0.0002599196,0.001187862,0.003025248,0.8020226,0.00007257882,0.1536665,0.0007431912],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9702781,0.00422979,0.0003090636,0.02482634,0.000125876,0.0001610119,0.00001761308,6.076727e-7,0.00005155902],"genre_scores_gemma":[0.9386602,0.02090201,0.0007773337,0.0354162,0.003399366,0.00000803177,0.00005096585,0.0000668269,0.0007190285],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1028091,"threshold_uncertainty_score":0.6509536,"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."}}