{"id":"W2149667682","doi":"10.1093/hmg/dds421","title":"Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants","year":2012,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":101,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Eye Institute","keywords":"Biology; Guanylate cyclase; Retinal; GUCY2D; Mutant; Retina; Genetics; Biochemistry; Neuroscience; Gene; Guanylate cyclase 2C; Receptor","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":[0.0002449315,0.0002602811,0.000261802,0.00008382366,0.0000972608,0.00002046071,0.0003711251,0.0001719461,0.00001946419],"category_scores_gemma":[0.00006378852,0.0001887221,0.00008657919,0.0001793163,0.0005679748,0.000008334684,0.0001842728,0.000124351,0.000001389993],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001898659,"about_ca_system_score_gemma":0.0001111407,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003290148,"about_ca_topic_score_gemma":0.00004034408,"domain_scores_codex":[0.9983262,0.0001618357,0.0004591273,0.0003373611,0.0003472131,0.0003682504],"domain_scores_gemma":[0.9992171,0.0000126486,0.0001940432,0.0003562768,0.0001247882,0.00009512476],"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":[0.0001705004,0.0001152898,0.1023467,0.00003021209,0.00003446835,0.00000282018,0.0007402088,0.00005370405,0.8963424,0.00003170094,0.00002675421,0.0001052754],"study_design_scores_gemma":[0.0007333913,0.0006065161,0.06253643,0.0001163769,0.00003146373,0.0000155139,0.0003429817,0.000006678616,0.9352619,0.00001474952,0.00006787655,0.0002661048],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972304,0.001849054,0.0000370264,0.00003957838,0.0000597803,0.0004599036,0.00001366232,0.000006653992,0.000304016],"genre_scores_gemma":[0.99906,0.00007938457,0.0006006577,0.00008630472,0.00002731197,0.00002837483,0.00002930766,0.0000352249,0.00005344235],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03981024,"threshold_uncertainty_score":0.7695864,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01391268508781365,"score_gpt":0.2513896566496239,"score_spread":0.2374769715618103,"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."}}