{"id":"W3111647953","doi":"10.1002/mgg3.1566","title":"Defective INPP5E distribution in NPHP1‐related Senior–Loken syndrome","year":2020,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":20,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Institute of General Medical Sciences; National Eye Institute; National Institutes of Health; Children's Health Research Institute; International Retinal Research Foundation; Foundation for the National Institutes of Health","keywords":"Nephronophthisis; Cilium; Biology; Cystic kidney disease; Pathology; Kidney; Retinal degeneration; Fanconi syndrome; Internal medicine; Endocrinology; Cell biology; Medicine; Retinal; Genetics; Biochemistry; Phenotype","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":[0.0001140286,0.0006712468,0.0003336759,0.0008074959,0.0003573818,0.000200786,0.0003123027,0.0006065044,0.00193353],"category_scores_gemma":[0.0003238867,0.000272633,0.000215942,0.000443998,0.0005973163,0.0002320592,0.000508552,0.0003491897,0.0002403752],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002549437,"about_ca_system_score_gemma":0.0002103341,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001048736,"about_ca_topic_score_gemma":0.001373321,"domain_scores_codex":[0.9998633,0.000009532751,0.00001840506,0.00004416631,0.0000390668,0.00002559465],"domain_scores_gemma":[0.9997906,0.00002835226,0.00009086257,0.00001165162,0.00001457994,0.00006408404],"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":[0.0006040834,0.00009403651,0.08265515,0.0003792245,0.0001099441,0.392101,0.0006446226,0.0005303083,0.5101125,0.0007655295,0.0006262584,0.01137729],"study_design_scores_gemma":[0.00005703341,0.0002850594,0.2337187,0.00003534922,0.0001386754,0.7004869,0.0002962404,0.001306711,0.05830867,0.0006061922,0.004725649,0.00003488734],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970099,0.0006606687,0.001141137,0.00007290996,0.00001492631,0.00001743356,0.000125349,0.00005252078,0.0009050245],"genre_scores_gemma":[0.9988174,0.0002074282,0.0005577473,0.00004737168,0.000009666361,0.000005646442,0.00008172136,0.000007940616,0.0002650529],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00193353,"threshold_uncertainty_score":0.006468356,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006299524557840399,"score_gpt":0.2231605721410621,"score_spread":0.2168610475832217,"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."}}