{"id":"W1966292963","doi":"10.1038/ng.2356","title":"Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration","year":2012,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":205,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; McGill University and Génome Québec Innovation Centre; McGill University Health Centre","funders":"National Center for Research Resources; National Eye Institute; Canadian Institutes of Health Research; U.S. Department of Veterans Affairs","keywords":"Biology; Retinal degeneration; Genetics; Wallerian degeneration; Exome sequencing; Retinitis pigmentosa; Gene; Mutation; Neuroscience","routes":{"ca_aff":true,"ca_fund":true,"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":[0.00009972392,0.0001292677,0.00007906101,0.00005095529,0.00006573904,0.0000371265,0.00006872301,0.000212656,0.000007645056],"category_scores_gemma":[0.0001354131,0.0001309296,0.00004397275,0.0000774555,0.00003622746,0.000008178853,0.000044866,0.0001032364,0.000002530572],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001118353,"about_ca_system_score_gemma":0.0001129053,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003831182,"about_ca_topic_score_gemma":0.0001260865,"domain_scores_codex":[0.9992639,0.00002487746,0.0001533897,0.0002190747,0.0001061068,0.0002326016],"domain_scores_gemma":[0.9995777,0.00001225039,0.00004343087,0.0001280572,0.00006731362,0.0001712712],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003729341,0.0001549991,0.7411036,0.00006106218,0.00007330465,0.000004026155,0.0004585484,0.0000935122,0.2405242,0.0004652558,0.009610396,0.007078133],"study_design_scores_gemma":[0.001945183,0.0001491241,0.7882575,0.00001793803,0.0001163691,0.00001127616,0.0001551804,0.0002032849,0.1529682,0.0007232227,0.05489636,0.0005563942],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9878298,0.009952054,0.001274535,0.0002226259,0.0002519558,0.0002969413,0.00003750232,0.000006443929,0.0001281291],"genre_scores_gemma":[0.9938791,0.0003350418,0.0039944,0.0002858089,0.0003021878,0.00003739277,0.0005037416,0.00001958057,0.0006427482],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.087556,"threshold_uncertainty_score":0.5339154,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01176297808007472,"score_gpt":0.2789094609653076,"score_spread":0.2671464828852328,"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."}}