{"id":"W2529670608","doi":"10.1111/cge.12878","title":"Novel <i><scp>DNMT3A</scp></i> germline mutations are associated with inherited Tatton‐Brown–Rahman syndrome","year":2016,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Cancer-related gene regulation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":45,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Intégré de Santé et de Services Sociaux des Laurentides; Centre intégré de santé et de services sociaux de Chaudière-Appalaches; Cégep de Baie-Comeau; Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-Jean","funders":"Reinberger Foundation; Cleveland Foundation","keywords":"Sanger sequencing; Genetics; Missense mutation; Exome sequencing; Germline; Mutation; Biology; Gene; Intellectual disability; Phenotype","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":[0.0003800772,0.0003081668,0.0003774955,0.00006514882,0.0001183423,0.00003432972,0.0002948006,0.0006203261,0.00002363104],"category_scores_gemma":[0.001268831,0.0002407873,0.000206261,0.0003286242,0.0004262078,0.000007421878,0.000139517,0.0002083957,0.00005068764],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005258614,"about_ca_system_score_gemma":0.0002030536,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003439124,"about_ca_topic_score_gemma":0.000160728,"domain_scores_codex":[0.9975976,0.0001455981,0.0007743892,0.0007213129,0.0003021905,0.0004589555],"domain_scores_gemma":[0.9978371,0.0003062295,0.0004970696,0.0006839525,0.0004056704,0.0002699423],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0001655977,0.001515651,0.127064,0.0000432616,0.001283223,0.00004891652,0.00007363987,0.003285557,0.8321378,0.0000401561,0.01977349,0.0145687],"study_design_scores_gemma":[0.009160928,0.002903603,0.8413984,0.0004133892,0.0004552498,0.0001880975,0.00009222074,0.001017881,0.06236656,0.0002025263,0.08109939,0.0007017773],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9858707,0.000670985,0.0117302,0.0004568255,0.0004098341,0.000369221,0.0001821674,0.00007021571,0.0002398076],"genre_scores_gemma":[0.9917898,0.0004510454,0.002471021,0.0004493665,0.000355168,0.00003965383,0.0004555926,0.00009509665,0.003893287],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7697712,"threshold_uncertainty_score":0.9819023,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02936538547459009,"score_gpt":0.2988595865199791,"score_spread":0.269494201045389,"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."}}