{"id":"W1982268836","doi":"10.1038/ejhg.2013.52","title":"Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans","year":2013,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Connexins and lens biology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":72,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia","funders":"Moorfields Eye Hospital NHS Foundation Trust; FP7 Information and Communication Technologies; National Institute for Health and Care Research; Wellcome Trust","keywords":"Genetics; Missense mutation; Wolfram syndrome; Biology; Exon; Gene; Cataracts; Mutation; Stop codon; Genetic linkage","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":[0.0003441794,0.0001813549,0.000211007,0.0001213053,0.00009383145,0.00005669656,0.0003234961,0.00006766189,0.0001743182],"category_scores_gemma":[0.00004607785,0.000161356,0.0001236983,0.00005482244,0.0001283398,0.000009471172,0.0001133643,0.0002132712,0.00007201332],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000019315,"about_ca_system_score_gemma":0.00004573677,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001769602,"about_ca_topic_score_gemma":0.00006137692,"domain_scores_codex":[0.9985136,0.0002926888,0.0005865364,0.0002176998,0.0001216491,0.0002677654],"domain_scores_gemma":[0.999121,0.00001076534,0.000306109,0.0002580784,0.0001893425,0.0001147461],"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":[0.00005512834,0.0001327117,0.004672971,0.000007449507,0.00007572586,0.0003106375,0.0004738691,0.0001065955,0.9872209,0.00003243202,0.001473901,0.005437696],"study_design_scores_gemma":[0.00443587,0.006890502,0.7869654,0.00005982405,0.0001111278,0.001014506,0.001052369,0.000116278,0.1362718,0.0001353322,0.06208874,0.0008581984],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974415,0.0009898412,0.00008103179,0.00009911422,0.0002010649,0.0001232142,0.000007126275,0.000004716506,0.001052411],"genre_scores_gemma":[0.9980016,0.0002083353,0.0006609301,0.0002543292,0.0005914439,0.000001109112,0.00003058392,0.00004777605,0.000203937],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8509491,"threshold_uncertainty_score":0.6579906,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01270376871166752,"score_gpt":0.2397888214707259,"score_spread":0.2270850527590583,"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."}}