{"id":"W2041508847","doi":"10.1097/icb.0b013e31804d1de0","title":"DE NOVO MUTATION IN A CHOROIDEREMIA CARRIER","year":2007,"lang":"en","type":"article","venue":"Retinal Cases & Brief Reports","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"","keywords":"Choroideremia; Proband; Medicine; Exon; Mutation; Genetics; Fundus (uterus); Point mutation; Gene; Stop codon; Ophthalmology; Biology","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":[0.0006415102,0.0001381055,0.0001187594,0.00006745504,0.00005072915,0.00002634324,0.0000526556,0.0001339953,0.00004154194],"category_scores_gemma":[0.000442956,0.0001456477,0.00006833787,0.0001363599,0.00005213999,0.00000532191,0.0000407393,0.00009358882,0.000002306972],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004962333,"about_ca_system_score_gemma":0.0001896915,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002238939,"about_ca_topic_score_gemma":0.0003836427,"domain_scores_codex":[0.9987488,0.00002840885,0.0003644104,0.0003387413,0.0001737276,0.0003459564],"domain_scores_gemma":[0.9994578,0.00001956462,0.0001327599,0.0002078928,0.00007382449,0.0001082027],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007417711,0.0001111437,0.7580059,0.00006064542,0.00003343849,0.0341793,0.0002924131,0.00005830946,0.1826029,0.0001509553,0.002776678,0.0209866],"study_design_scores_gemma":[0.0009074858,0.0005373927,0.6039095,0.00009646812,0.00003671824,0.0430302,0.0006189959,0.00001917773,0.1675047,0.0007017106,0.1818504,0.0007872672],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9840342,0.0006377036,0.0006815702,0.00005722741,0.00008513533,0.0001455431,0.000001752014,0.00001406876,0.01434276],"genre_scores_gemma":[0.9978536,0.00004692129,0.0005545469,0.0002850678,0.0001118861,0.00001008141,0.0001189434,0.0000188083,0.001000141],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1790737,"threshold_uncertainty_score":0.5939341,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007422052617240708,"score_gpt":0.2654235273169635,"score_spread":0.2580014746997228,"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."}}