{"id":"W4391174138","doi":"","title":"Novel pathogenic variants in Tubulin Tyrosine Like 5 (<i>TTLL5)</i> associated with cone-dominant retinal dystrophies and an abnormal optical coherence tomography phenotype.","year":2023,"lang":"en","type":"article","venue":"PubMed","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Electroretinography; Biology; Phenotype; Optical coherence tomography; Genetics; Missense mutation; Retinal degeneration; Retinal; Fundus photography; Ophthalmology; Gene; Medicine; Fluorescein angiography","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":[0.0002528647,0.001384954,0.0003468475,0.0008929542,0.0007152369,0.0004495429,0.0003614176,0.001174683,0.002558765],"category_scores_gemma":[0.0006923107,0.000232877,0.0005562929,0.0006218324,0.0005193601,0.0001784732,0.0003053926,0.0004771611,0.0004549875],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003397549,"about_ca_system_score_gemma":0.0002586204,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003233526,"about_ca_topic_score_gemma":0.0039183,"domain_scores_codex":[0.9996744,0.00004767376,0.00005398118,0.0001008923,0.000073889,0.00004915145],"domain_scores_gemma":[0.9995388,0.0001263546,0.0001957815,0.00001958024,0.00004082989,0.00007865726],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001619197,0.0007062813,0.2856093,0.0002666916,0.0004030361,0.5338397,0.001708555,0.0008609016,0.1550387,0.001283883,0.003075693,0.01558807],"study_design_scores_gemma":[0.0002249075,0.001122726,0.5536854,0.0001593351,0.0004652111,0.4099919,0.0005438554,0.002441731,0.02511354,0.0006261395,0.005546811,0.00007848543],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9952414,0.0003820425,0.001205589,0.0002066087,0.00006386386,0.00008132146,0.0005724839,0.00005663179,0.002190076],"genre_scores_gemma":[0.9982634,0.00005004225,0.0006816344,0.000167385,0.00004011023,0.000009994344,0.0002175678,0.00001161028,0.0005582641],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003233526,"threshold_uncertainty_score":0.008559942,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01030517787004459,"score_gpt":0.2081299742291802,"score_spread":0.1978247963591356,"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."}}