{"id":"W3198510843","doi":"10.1038/s41419-021-04130-8","title":"A novel mouse model of PMS2 founder mutation that causes mismatch repair defect due to aberrant splicing","year":2021,"lang":"en","type":"article","venue":"Cell Death and Disease","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; McGill University; Jewish General Hospital","funders":"National Institutes of Health; National Cancer Institute; Frederick National Laboratory for Cancer Research; U.S. Department of Health and Human Services","keywords":"PMS2; Biology; DNA mismatch repair; Microsatellite instability; Genetics; Germline mutation; RNA splicing; Germline; Missense mutation; Cancer research; Mutation; MLH1; Population; Bloom syndrome; DNA repair; Gene; Microsatellite; Medicine; Allele; Helicase","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0000582455,0.0001336738,0.0002201373,0.00005165076,0.00004462366,0.00001346584,0.00003168491,0.0000468149,0.00003668201],"category_scores_gemma":[0.0001607227,0.0001211736,0.000125411,0.00008859317,0.00002595928,0.00003337004,0.00004667086,0.00006177361,0.000005029189],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005231682,"about_ca_system_score_gemma":0.0003621214,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009510068,"about_ca_topic_score_gemma":0.00004717504,"domain_scores_codex":[0.9991203,0.00001607531,0.0001576168,0.0003052569,0.0002161139,0.0001846375],"domain_scores_gemma":[0.9989877,0.00005566355,0.00004085697,0.0002809792,0.0001145854,0.0005202576],"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":[0.002378193,0.001297342,0.1122509,0.003365101,0.0002072808,0.0006604986,0.003236101,0.02277307,0.8497666,0.0002383148,0.002889641,0.0009369191],"study_design_scores_gemma":[0.008109924,0.0006616607,0.1547627,0.000586848,0.002041384,0.0001549879,0.001373559,0.1589514,0.6703745,0.00174531,0.0002863444,0.0009513698],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9912879,0.0009976003,0.006253707,0.0001611028,0.00007360889,0.0003056006,0.00005418918,0.00006230614,0.0008039472],"genre_scores_gemma":[0.9925109,0.00004196401,0.005172896,0.001000388,0.00003307947,0.00003165517,0.0000269982,0.00002356391,0.001158619],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1793921,"threshold_uncertainty_score":0.4941317,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0411474483687051,"score_gpt":0.273816553253437,"score_spread":0.2326691048847319,"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."}}