{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001579458,0.001110827,0.0004608894,0.0008700039,0.0004912901,0.0003283607,0.0003360917,0.001117696,0.001328162],"category_scores_gemma":[0.0005540852,0.0002694008,0.0004993932,0.0005081553,0.0005625236,0.0002559037,0.0005040356,0.0006535682,0.0004373613],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004068016,"about_ca_system_score_gemma":0.0002543709,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001620493,"about_ca_topic_score_gemma":0.002095998,"domain_scores_codex":[0.9997469,0.00003357484,0.0000397803,0.00005215953,0.00009309488,0.00003448902],"domain_scores_gemma":[0.9996386,0.00009279222,0.0001163379,0.00002206313,0.0000354274,0.00009487348],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001569143,0.0002208592,0.02345206,0.0001576956,0.0002312048,0.1915634,0.0004417722,0.00137231,0.7668532,0.001776763,0.001396184,0.01096548],"study_design_scores_gemma":[0.0003885138,0.0008829677,0.2161126,0.0001019284,0.000601624,0.4897676,0.0008038347,0.008610439,0.2712437,0.0028761,0.008442312,0.0001684807],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958457,0.0004127183,0.001375648,0.0002264366,0.00007636549,0.00001573379,0.0002496027,0.0001196123,0.001678302],"genre_scores_gemma":[0.9983829,0.0001477764,0.0006548965,0.00006019964,0.0000260116,0.000002294906,0.0000985025,0.0000249208,0.0006024577],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001620493,"threshold_uncertainty_score":0.004443169,"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."}}