{"id":"W1966333599","doi":"10.1038/sj.ejhg.5201943","title":"Patient mutations alter ATRX targeting to PML nuclear bodies","year":2007,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":47,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Ottawa","funders":"","keywords":"ATRX; Death-associated protein 6; Biology; Chromatin remodeling; Chromatin; Heterochromatin; Nuclear protein; Genetics; Cell biology; Mutation; Gene; Transcription factor","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0003250563,0.001840946,0.000776801,0.000918597,0.0008791931,0.001212655,0.0006662323,0.003033638,0.01292744],"category_scores_gemma":[0.001201249,0.000495883,0.000690399,0.0007770343,0.001006893,0.000741842,0.0007191655,0.001202188,0.003130449],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004960636,"about_ca_system_score_gemma":0.0003217352,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000543729,"about_ca_topic_score_gemma":0.00073111,"domain_scores_codex":[0.9994969,0.00005228871,0.00009296364,0.0001253882,0.0001624396,0.00007007481],"domain_scores_gemma":[0.9990846,0.0003195058,0.000286093,0.0001171865,0.00004983234,0.000142906],"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":[0.0009241124,0.0003038739,0.02836153,0.0002619902,0.0003755553,0.2368031,0.001152791,0.002074994,0.6929436,0.005600515,0.003685984,0.02751203],"study_design_scores_gemma":[0.0001812799,0.0003576576,0.04305817,0.00004401092,0.0003349614,0.5797703,0.0004175914,0.002723275,0.3539096,0.002620179,0.0164983,0.00008465393],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9709924,0.0006910109,0.005744501,0.001030826,0.0002673999,0.00005979771,0.001436919,0.0006963131,0.01908077],"genre_scores_gemma":[0.9944063,0.0001779111,0.001622932,0.0001853138,0.00006182469,0.0000160555,0.0003072846,0.0001388548,0.003083419],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01292744,"threshold_uncertainty_score":0.04324663,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01094433226551431,"score_gpt":0.2403575956067659,"score_spread":0.2294132633412516,"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."}}