{"id":"W2254618417","doi":"10.1038/srep10566","title":"A germline mutation in SRRM2, a splicing factor gene, is implicated in papillary thyroid carcinoma predisposition","year":2015,"lang":"en","type":"article","venue":"Scientific Reports","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":113,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto","funders":"National Cancer Institute; University of Toronto; Lerner Research Institute, Cleveland Clinic; Research Institute, Nationwide Children's Hospital; Nationwide Children's Hospital; Cleveland Clinic","keywords":"Genetics; Exon; Biology; Missense mutation; RNA splicing; Germline mutation; Mutation; Exon skipping; Exome; Gene; Alternative splicing; Haplotype; Exome sequencing; Allele; RNA","routes":{"ca_aff":true,"ca_fund":true,"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":[0.000867994,0.000123304,0.0001370755,0.0002168661,0.00006615578,0.00009684694,0.0001055483,0.0001128467,0.000009013109],"category_scores_gemma":[0.0001596708,0.000117679,0.00005106325,0.0004388048,0.00007354427,0.00001737572,0.000094398,0.0001032609,0.000005988573],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008095021,"about_ca_system_score_gemma":0.0002602517,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003713935,"about_ca_topic_score_gemma":0.0002696005,"domain_scores_codex":[0.9981616,0.00006513175,0.0004149529,0.0006675952,0.0003291836,0.0003614942],"domain_scores_gemma":[0.9990144,0.000005507085,0.0001278051,0.0005246341,0.0001638968,0.0001637375],"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":[0.00004301383,0.00004999667,0.06796587,0.00001142951,0.000004547281,0.0004347938,0.000257431,0.0001297924,0.9285918,0.000001154168,0.00179097,0.0007192097],"study_design_scores_gemma":[0.0007266009,0.0002078339,0.0850073,0.00003594839,0.000004436069,0.0005169455,0.0001770456,0.003650554,0.9076901,0.0005009332,0.001229438,0.0002528409],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981972,0.0005585706,0.0001760034,0.0001101106,0.0003635028,0.0003674031,0.000008071249,0.00001117972,0.0002079451],"genre_scores_gemma":[0.9982223,0.00001062992,0.0001964764,0.00005228074,0.00006768099,0.00003654813,0.0003897873,0.00001473356,0.001009559],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02090168,"threshold_uncertainty_score":0.4798811,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01921346076018114,"score_gpt":0.2812424280123775,"score_spread":0.2620289672521963,"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."}}