{"id":"W1165146912","doi":"","title":"Clinical Findings in a Symptomatic Carrier of a Novel 3'-Splice Site Mutation in Intron 6 of the Choroideremia Gene","year":2003,"lang":"en","type":"article","venue":"Investigative Ophthalmology & Visual Science","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta; University of British Columbia; Western University","funders":"","keywords":"Choroideremia; Intron; splice; Genetics; Splice site mutation; Gene; RNA splicing; Mutation; Biology; Computational biology; RNA","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":[0.0002421836,0.002128356,0.0008433436,0.001582296,0.001374376,0.000549564,0.0008331152,0.003328195,0.002946322],"category_scores_gemma":[0.002223233,0.0005418982,0.0006023047,0.001007628,0.002000966,0.0006697241,0.0006702543,0.001356071,0.000627476],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004644034,"about_ca_system_score_gemma":0.0007227148,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005363637,"about_ca_topic_score_gemma":0.002645798,"domain_scores_codex":[0.9996798,0.0000332737,0.00003988935,0.00009737229,0.00007318745,0.00007652494],"domain_scores_gemma":[0.9990048,0.0003825515,0.0001474162,0.00003679334,0.00007214642,0.0003562991],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0001676265,0.000066391,0.008155932,0.00002651564,0.00001089729,0.9844047,0.0002384508,0.00008088723,0.005804476,0.0001758936,0.0002004951,0.0006677287],"study_design_scores_gemma":[0.00006166879,0.0002688165,0.02529094,0.00001081622,0.00003632918,0.9720396,0.0001552346,0.000413896,0.001255924,0.0001692474,0.0002746281,0.00002287],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9921424,0.0005959562,0.0007505552,0.0009501481,0.0001040103,0.00006369506,0.0002404235,0.00009186576,0.005060842],"genre_scores_gemma":[0.9978719,0.0002045788,0.0003801194,0.0002850822,0.0000925808,0.00001250244,0.0001014174,0.00001971379,0.001032144],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005363637,"threshold_uncertainty_score":0.01066482,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02605758678773863,"score_gpt":0.3409785331216099,"score_spread":0.3149209463338713,"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."}}