{"id":"W4242874912","doi":"10.1007/s004390000366","title":"The identical 5? splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect","year":2000,"lang":"en","type":"article","venue":"Human Genetics","topic":"Forensic and Genetic Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":false,"ca_institutions":"Health Sciences Centre; Memorial University of Newfoundland","funders":"","keywords":"Founder effect; Biology; Genetics; Human genetics; splice; Mutation; Splice site mutation; RNA splicing; Gene; Haplotype; Allele","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0002247215,0.0009214279,0.0005445625,0.002361502,0.001678126,0.0004989431,0.0007364728,0.0005966272,0.005185303],"category_scores_gemma":[0.001168455,0.0002367452,0.0005519902,0.001067872,0.001143967,0.000204209,0.0006654749,0.0006017138,0.000389235],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001063451,"about_ca_system_score_gemma":0.0009007758,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.1145251,"about_ca_topic_score_gemma":0.1392546,"domain_scores_codex":[0.9995916,0.00004535677,0.00004701336,0.00009488415,0.00009457734,0.0001264079],"domain_scores_gemma":[0.9992925,0.0002370253,0.0001671232,0.0000555174,0.000125771,0.0001220529],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001767574,0.0003877892,0.5674692,0.00012282,0.0002838777,0.1690696,0.006810422,0.0007171837,0.2162473,0.001589164,0.0008913527,0.03464382],"study_design_scores_gemma":[0.00006519054,0.0003606048,0.8479592,0.00004199015,0.000381762,0.1287694,0.001839105,0.000627321,0.01637367,0.0002045969,0.003328026,0.0000491368],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978561,0.00007906414,0.0003041134,0.00005639633,0.000006340686,0.000008446459,0.0001751297,0.00001211376,0.001502227],"genre_scores_gemma":[0.9986375,0.0000527494,0.0003394352,0.00003377369,0.000005535288,0.000003969697,0.0001229167,0.00001016986,0.0007939747],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8854749,"threshold_uncertainty_score":0.2277169,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009971499360764823,"score_gpt":0.2904921075008882,"score_spread":0.2805206081401234,"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."}}