{"id":"W2152184488","doi":"10.1093/hmg/ddn076","title":"Subnuclear localization and mobility are key indicators of PAX3 dysfunction in Waardenburg syndrome","year":2008,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Genomics and Chromatin Dynamics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"Core Research for Evolutional Science and Technology","keywords":"PAX3; Biology; Mutant; Genetics; Colocalization; Waardenburg syndrome; Transcription factor; Phenotype; Gene; Cell biology","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":[0.00008751802,0.0004154896,0.000178487,0.0006320152,0.0001621789,0.0002119248,0.000154135,0.0002755175,0.001380846],"category_scores_gemma":[0.0001969024,0.0001945405,0.0001973338,0.0001603882,0.0003168889,0.0001735077,0.0003472576,0.0003145105,0.0001931616],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001631145,"about_ca_system_score_gemma":0.0001173773,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001058637,"about_ca_topic_score_gemma":0.001513655,"domain_scores_codex":[0.9998702,0.00001662011,0.00002060587,0.00003954968,0.00003108185,0.00002188484],"domain_scores_gemma":[0.9998738,0.00001994038,0.00005231466,0.00001096851,0.000007954923,0.00003504541],"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":[0.00005567373,0.000005798033,0.003113172,0.00001304041,0.000007433131,0.0003401797,0.00003443791,0.00004482525,0.9955309,0.0000574667,0.000008207304,0.0007888845],"study_design_scores_gemma":[0.0000154558,0.0002404679,0.1783663,0.00001158655,0.00006607685,0.007464168,0.0001916934,0.001469165,0.8109832,0.0002475595,0.0009265715,0.00001787443],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979724,0.0004156045,0.001201542,0.00001297795,0.000004049481,0.000005586717,0.00008338195,0.00003674655,0.0002676446],"genre_scores_gemma":[0.9983017,0.0002221501,0.000879056,0.000007544984,0.000001649005,0.000008562284,0.00008249379,0.00001273114,0.000483943],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001380846,"threshold_uncertainty_score":0.00461936,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006059160290029363,"score_gpt":0.2048684534828028,"score_spread":0.1988092931927734,"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."}}