{"id":"W2132739680","doi":"10.1681/asn.2010050518","title":"Mutations in INF2 Are a Major Cause of Autosomal Dominant Focal Segmental Glomerulosclerosis","year":2011,"lang":"en","type":"article","venue":"Journal of the American Society of Nephrology","topic":"Renal Diseases and Glomerulopathies","field":"Medicine","cited_by":168,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Formins; Podocyte; Focal segmental glomerulosclerosis; Nephrin; Biology; Actin; Slit diaphragm; Actin cytoskeleton; Mutation; Genetics; Semaphorin; Missense mutation; Haploinsufficiency; Cell biology; Gene; Cytoskeleton; Receptor; Glomerulonephritis; Phenotype; Kidney; 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":[0.0002456473,0.0008879788,0.000371669,0.0009188876,0.0003721169,0.0002012377,0.0002206028,0.0004066549,0.002002516],"category_scores_gemma":[0.0007672101,0.0001495241,0.000151145,0.0003927486,0.0002647086,0.000166549,0.0002238554,0.0001786113,0.0002183461],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001817991,"about_ca_system_score_gemma":0.0001231726,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006808327,"about_ca_topic_score_gemma":0.0009655466,"domain_scores_codex":[0.9998189,0.0000317801,0.00001965435,0.00003976685,0.00005525642,0.00003459429],"domain_scores_gemma":[0.9998391,0.00003860078,0.00006628901,0.000007492415,0.00001628899,0.00003224238],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00151225,0.0001831168,0.6542273,0.0002643464,0.0002491538,0.08891493,0.0006381712,0.0004827643,0.1951209,0.0007191318,0.001642492,0.05604544],"study_design_scores_gemma":[0.00006767627,0.0003177738,0.744239,0.00006759848,0.000199654,0.2275289,0.0002742319,0.0008630584,0.02170269,0.0003707259,0.004342036,0.00002659249],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975925,0.0007023945,0.0004834521,0.00006376522,0.000006233543,0.000006959586,0.0001042218,0.00002740638,0.001013032],"genre_scores_gemma":[0.9988468,0.0002049819,0.0004223476,0.00003130816,0.00001832005,0.000003600784,0.0001372015,0.000005557253,0.0003300048],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002002516,"threshold_uncertainty_score":0.006699026,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02422326802815179,"score_gpt":0.2747530727851898,"score_spread":0.250529804757038,"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."}}