{"id":"W2152477540","doi":"10.1038/ng.3319","title":"Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia","year":2015,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":216,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre; SickKids Foundation; Izaak Walton Killam Health Centre; Hospital for Sick Children; University of Toronto","funders":"National Institute of Neurological Disorders and Stroke; National Cancer Institute; Wellcome Trust; National Eye Institute; National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; National Institute for Health and Care Research; U.S. Department of Veterans Affairs","keywords":"Achromatopsia; Biology; Unfolded protein response; Genetics; Brachydactyly; Retinal degeneration; Retinal Disorder; Photophobia; Phenotype; ATF6; Exome sequencing; Retinal; Cell biology; Gene; Neuroscience; Endocrinology","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":[0.0005754094,0.0001461616,0.00008534859,0.00003950619,0.0001060491,0.00004619167,0.0002828775,0.0002857943,0.000007057924],"category_scores_gemma":[0.0003601033,0.00009049606,0.00004549129,0.0002549282,0.0001044351,0.000003740039,0.00006378604,0.0002527249,0.00001246996],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001852381,"about_ca_system_score_gemma":0.0001927968,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007084748,"about_ca_topic_score_gemma":0.000136378,"domain_scores_codex":[0.9988693,0.0002548742,0.0001800663,0.0002327261,0.0002635447,0.0001994952],"domain_scores_gemma":[0.9993199,0.00003311768,0.00006693133,0.0004124896,0.0001196271,0.00004799473],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.007787834,0.0009116202,0.1256105,0.00009293507,0.0004246318,0.00008293497,0.009584471,0.002106444,0.6618209,0.001696896,0.1767669,0.01311386],"study_design_scores_gemma":[0.003780421,0.0008645994,0.4104743,0.00005042338,0.00009774495,0.00009975044,0.005444901,0.0004000231,0.0689705,0.003217241,0.5057961,0.0008039546],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9930197,0.002777996,0.0001518187,0.002840561,0.0001684585,0.0005645242,0.000007204419,0.00001058452,0.0004591584],"genre_scores_gemma":[0.9976302,0.00005096649,0.0004052178,0.0006026225,0.00009803825,0.00008538282,0.0001171865,0.00001770058,0.0009926915],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5928504,"threshold_uncertainty_score":0.3690322,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01042103095439436,"score_gpt":0.2586664227129362,"score_spread":0.2482453917585418,"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."}}