{"id":"W3099711022","doi":"10.1016/j.ekir.2020.10.040","title":"Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome","year":2020,"lang":"en","type":"article","venue":"Kidney International Reports","topic":"Renal Diseases and Glomerulopathies","field":"Medicine","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"Dalhousie University","funders":"National Center for Advancing Translational Sciences; Harvard Stem Cell Institute; National Institutes of Health; Deutsche Forschungsgemeinschaft; Humane Slaughter Association; National Institute of Diabetes and Digestive and Kidney Diseases; PKD Australia; California Department of Fish and Game; American Society of Nephrology","keywords":"Podocyte; Nephrotic syndrome; Gene knockdown; Transfection; Small hairpin RNA; Synaptopodin; Molecular biology; Missense mutation; Wild type; Biology; Actinin; Cancer research; Medicine; Mutation; Mutant; Gene; Endocrinology; Cell; Genetics; Kidney; Cytoskeleton; Proteinuria","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":[0.0001072813,0.0007425935,0.0002207888,0.0006228306,0.000271301,0.0001811908,0.0003112063,0.0004744706,0.003495708],"category_scores_gemma":[0.0001831207,0.0001097869,0.0002541959,0.0002694195,0.0002298909,0.0001434121,0.0002895046,0.0002808124,0.0004769205],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001577482,"about_ca_system_score_gemma":0.0002046686,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003094406,"about_ca_topic_score_gemma":0.0004774773,"domain_scores_codex":[0.999918,0.00001054768,0.000008759067,0.0000287376,0.00002296898,0.00001103796],"domain_scores_gemma":[0.9999112,0.00001629551,0.00002877352,0.000006703428,0.000008140448,0.00002895263],"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":[0.0007104728,0.00009228774,0.03536148,0.0002199551,0.0001208328,0.0586451,0.0001336926,0.0003615317,0.8858669,0.001545908,0.000835636,0.01610621],"study_design_scores_gemma":[0.0002283202,0.0007617728,0.2833381,0.0001184524,0.0003578365,0.2962343,0.0002777536,0.005325167,0.3801436,0.001902148,0.03124822,0.000064316],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9927042,0.001059007,0.003407557,0.0001656118,0.0000527458,0.0000297722,0.0007046229,0.0001303269,0.001746168],"genre_scores_gemma":[0.9945192,0.0005048162,0.002427553,0.00007889261,0.00003133974,0.00002459232,0.000841043,0.00002576978,0.00154689],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003495708,"threshold_uncertainty_score":0.01169425,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01202557011207821,"score_gpt":0.2836610233390762,"score_spread":0.2716354532269979,"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."}}