{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00007297422,0.00009986253,0.0002294692,0.0001408119,0.00001708604,0.00001316399,0.00006323885,0.00004130957,0.0007437076],"category_scores_gemma":[0.002049793,0.00009084831,0.0001155048,0.0002347896,0.00004852198,0.0001050901,0.00004071854,0.0001061516,0.00004036004],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000063216,"about_ca_system_score_gemma":0.000449915,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003132146,"about_ca_topic_score_gemma":0.000008224005,"domain_scores_codex":[0.9987468,0.00001762862,0.0004957119,0.0002330652,0.0003899081,0.0001169132],"domain_scores_gemma":[0.9990746,0.00003082953,0.0002470187,0.0001405503,0.0001700366,0.0003369907],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001440153,0.001258824,0.8263964,0.001183397,0.001589827,0.09627108,0.004443408,0.0008954344,0.03440806,0.002554749,0.02537584,0.004182813],"study_design_scores_gemma":[0.0034326,0.0009784476,0.9287185,0.002123994,0.000483047,0.01516319,0.0009448616,0.003393347,0.01076229,0.007734516,0.02569607,0.0005691114],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9811656,0.0002456743,0.00003895426,0.01115101,0.0002514142,0.0002622821,0.00005614434,0.00002598414,0.006802947],"genre_scores_gemma":[0.9968022,0.00009918042,0.0001867478,0.002143419,0.00005736096,0.00003278811,0.0002236804,0.00001273635,0.00044187],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1023221,"threshold_uncertainty_score":0.8143077,"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."}}