{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001168128,0.000153579,0.000186058,0.0001082236,0.00007902751,0.000009173563,0.0001273856,0.0001872765,0.00001163826],"category_scores_gemma":[0.00001841382,0.0001765591,0.00005708048,0.0001355838,0.0001770947,0.000002159513,0.0001206803,0.00008013158,0.000001583073],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002113716,"about_ca_system_score_gemma":0.00003502088,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001827392,"about_ca_topic_score_gemma":0.00004303058,"domain_scores_codex":[0.9989756,0.00006012926,0.0003100638,0.0003302854,0.0001444748,0.0001795012],"domain_scores_gemma":[0.9993593,0.000003247922,0.0001534977,0.0003575177,0.00005717833,0.0000693121],"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":[0.00004249406,0.0003534025,0.2815193,0.0001479128,0.00007791746,0.0001140494,0.0003509103,0.008974867,0.7075121,0.0002701044,0.0001313899,0.0005055492],"study_design_scores_gemma":[0.001137184,0.0005765358,0.9391801,0.00003544482,0.00003552219,0.0001538667,0.0001609147,0.001980137,0.0545238,0.0004982613,0.001304696,0.0004135716],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9963205,0.0008525104,0.002412692,0.0000100421,0.00003289644,0.0001919988,0.00001136358,0.000007418221,0.0001605261],"genre_scores_gemma":[0.9987483,0.0004359995,0.0005678897,0.0000643266,0.00001557044,0.000008141339,0.0000937638,0.00003199477,0.00003400707],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6576608,"threshold_uncertainty_score":0.7199869,"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."}}