{"id":"W4313442597","doi":"10.12974/2311-8687.2016.04.02.1","title":"ETV4 Mutation in a Patient with Congenital Anomalies of the Kidney and Urinary Tract","year":2016,"lang":"en","type":"article","venue":"International Journal of Pediatrics and Child Health","topic":"Renal and related cancers","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Manton Center for Orphan Disease Research, Boston Children's Hospital; National Institutes of Health; Ministero dello Sviluppo Economico; Fundação de Amparo à Pesquisa do Estado de São Paulo; Ontario Ministry of Economic Development and Innovation; Deutsche Akademie der Naturforscher Leopoldina - Nationale Akademie der Wissenschaften; Genome Canada; GlaxoSmithKline; Pfizer; Deutsche Forschungsgemeinschaft; Eli Lilly and Company","keywords":"Biology; Missense mutation; Mutant; Transcription factor; Mutation; Genetics; Glial cell line-derived neurotrophic factor; HEK 293 cells; Cancer research; Cell biology; Gene; Receptor; Neurotrophic factors","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000199399,0.001049835,0.0009562502,0.00142213,0.001295099,0.0005591212,0.0007156783,0.00318115,0.002101732],"category_scores_gemma":[0.001085642,0.0005753954,0.0007400009,0.0009903574,0.0009703374,0.0005219041,0.001061117,0.001703035,0.00023213],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007108542,"about_ca_system_score_gemma":0.0006669647,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003435019,"about_ca_topic_score_gemma":0.00308758,"domain_scores_codex":[0.9995638,0.00003570163,0.00005215067,0.000171587,0.00007383813,0.0001028523],"domain_scores_gemma":[0.9992447,0.0002591536,0.0001073326,0.00002773452,0.00004031515,0.0003208212],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0001052056,0.00007104791,0.01133925,0.00003449076,0.00001934029,0.975962,0.0003509832,0.0001360286,0.01014404,0.0002093432,0.0001236135,0.001504742],"study_design_scores_gemma":[0.00002096299,0.0001700804,0.019155,0.00001111017,0.00003200211,0.9752275,0.0001269316,0.0004830008,0.004207259,0.0001349536,0.0004086327,0.00002258807],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9969429,0.0005712918,0.0007846215,0.0004313365,0.00004634388,0.00003109806,0.0001829342,0.00005105135,0.000958367],"genre_scores_gemma":[0.9981257,0.0002253246,0.0006954695,0.0001310297,0.00003597637,0.000006884242,0.0000664673,0.00001277267,0.0007003912],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003435019,"threshold_uncertainty_score":0.007030964,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003237012162945958,"score_gpt":0.2287685017042151,"score_spread":0.2255314895412691,"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."}}