{"id":"W3139281952","doi":"10.1093/hmg/ddab081","title":"Transgenic mice with an R342X mutation in <i>Phf6</i> display clinical features of Börjeson–Forssman–Lehmann Syndrome","year":2021,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Ottawa Hospital; Hospital for Sick Children; University of Ottawa","funders":"Canadian Institutes of Health Research","keywords":"Endocrinology; Internal medicine; Nonsense; Nonsense mutation; Genetically modified mouse; Medicine; Pathogenesis; Mutation; Transgene; Biology; Missense mutation; Genetics; Gene","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001941539,0.0008051259,0.0002651724,0.0005453442,0.000258544,0.0002575913,0.0004235868,0.0007741131,0.004214295],"category_scores_gemma":[0.0001430662,0.00025779,0.0003745538,0.0002496749,0.0005242812,0.0001894988,0.0003281507,0.0009503568,0.001245878],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001870046,"about_ca_system_score_gemma":0.0001658522,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006456314,"about_ca_topic_score_gemma":0.001228983,"domain_scores_codex":[0.999775,0.00003546218,0.00003014066,0.00006411129,0.0000581929,0.00003711418],"domain_scores_gemma":[0.999815,0.00002968033,0.00008870202,0.00001192904,0.00000670541,0.00004804265],"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":[0.0001206419,0.00005276657,0.000274828,0.00004059516,0.00001507434,0.0009173689,0.00004792905,0.00008170495,0.995703,0.0003276468,0.0002958972,0.002122544],"study_design_scores_gemma":[0.0002948227,0.0008467343,0.02181672,0.00006521946,0.0001159594,0.0242763,0.0001963793,0.00234053,0.9241681,0.0005784599,0.02523641,0.0000644015],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9769735,0.0007406994,0.0126828,0.0005527745,0.0001397462,0.0001547411,0.003328317,0.0009490942,0.004478309],"genre_scores_gemma":[0.9762449,0.0009863966,0.01068409,0.0002137498,0.00005329947,0.0001518324,0.002811053,0.0002744974,0.008580208],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004214295,"threshold_uncertainty_score":0.01409817,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01309362435045141,"score_gpt":0.2833242300851385,"score_spread":0.270230605734687,"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."}}