{"id":"W1978347011","doi":"10.1002/humu.10114","title":"Mutational analysis of patients with the diagnosis of choroideremia","year":2002,"lang":"en","type":"article","venue":"Human Mutation","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":74,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"","keywords":"Biology; Choroideremia; Genetics; Exon; Mutation; Gene; Stop codon; Mutation testing; Gene mutation; Molecular 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":[0.0003056317,0.0006628257,0.0005130268,0.002344079,0.0007799687,0.000346337,0.0002554703,0.0005910604,0.002636873],"category_scores_gemma":[0.002118377,0.0002559127,0.0003137977,0.0007916179,0.0003712501,0.0002708761,0.0002926345,0.0002643742,0.000323233],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003381805,"about_ca_system_score_gemma":0.0002125085,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002732917,"about_ca_topic_score_gemma":0.00128844,"domain_scores_codex":[0.9997084,0.00004382843,0.00004271458,0.00009158636,0.00006096738,0.00005251599],"domain_scores_gemma":[0.999476,0.0002114448,0.0001009954,0.00004095719,0.00005898617,0.0001115417],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007512411,0.0001404452,0.9157989,0.0000572315,0.00007418316,0.03736107,0.001417261,0.0002023437,0.03377559,0.000148541,0.0003788219,0.0098944],"study_design_scores_gemma":[0.00003654351,0.0004360824,0.9385264,0.00002359442,0.000077482,0.05433717,0.0004449818,0.0004867633,0.004474464,0.0001058543,0.001032323,0.00001838003],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991739,0.0001274612,0.00008902147,0.00001670249,0.000002786999,0.00001182069,0.000111297,0.000006697073,0.0004602697],"genre_scores_gemma":[0.9992325,0.0001061698,0.0002107188,0.00001865496,0.000007047565,0.00001572958,0.0001796542,0.000004324498,0.0002253053],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002732917,"threshold_uncertainty_score":0.008821249,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009573946721395525,"score_gpt":0.2284143319439047,"score_spread":0.2188403852225092,"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."}}