{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00008766694,0.00060169,0.000204692,0.0005384586,0.0004199889,0.0002281888,0.0002740468,0.0003749616,0.001977067],"category_scores_gemma":[0.0005153123,0.0001741585,0.0002283592,0.0003562256,0.0005924016,0.0001101107,0.0003156944,0.0002500167,0.0002164768],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003124186,"about_ca_system_score_gemma":0.0003409495,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00698766,"about_ca_topic_score_gemma":0.01109773,"domain_scores_codex":[0.9998341,0.00001326357,0.00001792355,0.00003924745,0.00005178978,0.0000436993],"domain_scores_gemma":[0.9997743,0.00005030369,0.00009024784,0.00001335211,0.0000196477,0.00005222761],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0004559552,0.00007131937,0.2587419,0.0001960689,0.0002769032,0.3675734,0.001832806,0.001067181,0.3379016,0.001161119,0.001333981,0.02938789],"study_design_scores_gemma":[0.0000733784,0.0002507392,0.3950874,0.00003817237,0.0002467859,0.5348586,0.0004854843,0.001623415,0.06208865,0.0004643035,0.004737264,0.00004585431],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977912,0.0002306107,0.0005233059,0.00004329354,0.000007108609,0.00001185367,0.0001226023,0.00004904019,0.001221018],"genre_scores_gemma":[0.9992138,0.00007529603,0.0003572864,0.00002030051,0.00000787162,0.00000243668,0.00005204037,0.000007886032,0.0002631644],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00698766,"threshold_uncertainty_score":0.01389396,"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."}}