{"id":"W2517789286","doi":"10.1242/dmm.026773","title":"Upregulation of the <i>Nr2f1</i>-<i>A830082K12Rik</i> gene pair in murine neural crest cells results in a complex phenotype reminiscent of Waardenburg syndrome type 4","year":2016,"lang":"en","type":"article","venue":"Disease Models & Mechanisms","topic":"Congenital gastrointestinal and neural anomalies","field":"Medicine","cited_by":41,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Université du Québec à Montréal","funders":"Fonds de recherche du Québec – Nature et technologies; Université du Québec à Montréal; Natural Sciences and Engineering Research Council of Canada; Canadian Institutes of Health Research; Fonds de Recherche du Québec - Santé; Fondation du Grand défi Pierre Lavoie","keywords":"Waardenburg syndrome; Neural crest; Biology; Microphthalmia-associated transcription factor; SOX10; Genetics; Phenotype; Insertional mutagenesis; Gene; Transcription factor; Mutant","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001761107,0.0002130751,0.0004014057,0.0001218871,0.00002384148,0.000004699306,0.0001891807,0.00004736627,0.00003966443],"category_scores_gemma":[0.00007795826,0.0001282885,0.0001402556,0.0003360345,0.00008939683,0.00009732712,0.0001673226,0.000102076,0.000004675206],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000534917,"about_ca_system_score_gemma":0.000087269,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001163666,"about_ca_topic_score_gemma":0.00006761004,"domain_scores_codex":[0.9982457,0.00009299144,0.0006255931,0.0003481761,0.0004043984,0.0002831627],"domain_scores_gemma":[0.9989781,0.00006846053,0.0001973183,0.0004461506,0.0001459749,0.0001639439],"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":[0.005715864,0.0006789571,0.007044328,0.0002142702,0.00002157237,0.0002351436,0.0001976968,0.001614303,0.9807158,0.001025193,0.00007364893,0.002463228],"study_design_scores_gemma":[0.009479478,0.00195161,0.6091652,0.002288577,0.0002655064,0.0001590265,0.0001167713,0.05430831,0.2994427,0.02215605,0.00007733644,0.0005893687],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968984,0.0001131916,0.0002773247,0.00176552,0.0000882484,0.0005683276,0.0001555901,0.00002663006,0.0001067898],"genre_scores_gemma":[0.998705,0.00001892399,0.0006329946,0.0001475183,0.00002218941,0.00001498132,0.00003119541,0.00002400656,0.0004031621],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.681273,"threshold_uncertainty_score":0.5231454,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03532348155888601,"score_gpt":0.2332298987439883,"score_spread":0.1979064171851023,"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."}}