{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001346335,0.00101378,0.0004379821,0.001346957,0.0008703198,0.0005519465,0.000475733,0.001785847,0.002529321],"category_scores_gemma":[0.001149674,0.0004065351,0.0003964894,0.0004558435,0.0006232413,0.0003922519,0.0006781316,0.0008807476,0.0006933619],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004398281,"about_ca_system_score_gemma":0.0003120959,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001394631,"about_ca_topic_score_gemma":0.001229797,"domain_scores_codex":[0.9997482,0.00002100848,0.00002435693,0.00008438801,0.00005274052,0.00006929743],"domain_scores_gemma":[0.9993655,0.0001938104,0.0001617187,0.00004689652,0.0000505997,0.0001815151],"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":[0.00002858124,0.00003174144,0.007177432,0.00001845855,0.000007431164,0.9824011,0.0001788187,0.00003275246,0.007380142,0.0001757863,0.0003362686,0.002231559],"study_design_scores_gemma":[0.000008890258,0.000061482,0.00591583,0.000006044946,0.00001230392,0.9910423,0.00005076114,0.0001327019,0.001760758,0.00005807729,0.0009449287,0.000006020041],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9908829,0.002080278,0.001564352,0.000815394,0.000130615,0.00005608871,0.0001380723,0.0001266194,0.004205578],"genre_scores_gemma":[0.9952159,0.0007948657,0.001308289,0.000229589,0.0002077155,0.00001755859,0.00009536001,0.00002771368,0.002102937],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002529321,"threshold_uncertainty_score":0.008461416,"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."}}