{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004105876,0.0001917111,0.0001975841,0.0001071321,0.00007203793,0.0000485168,0.0001458014,0.0001409859,0.000004604424],"category_scores_gemma":[0.0001026985,0.0001648251,0.00003571037,0.0004342874,0.0002138263,0.00001342268,0.00009839798,0.0001117854,0.000002806328],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001111577,"about_ca_system_score_gemma":0.00005195008,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002817593,"about_ca_topic_score_gemma":0.0002537087,"domain_scores_codex":[0.9986242,0.00004770569,0.0002239385,0.0004201655,0.0001796019,0.0005044085],"domain_scores_gemma":[0.9995246,0.00002143921,0.00007230807,0.0001687818,0.00006575544,0.0001471308],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003441717,0.0007675218,0.5613236,0.00007981931,0.0002681557,0.0002321483,0.0002786572,0.00007312118,0.412198,0.0005731409,0.001294069,0.01947004],"study_design_scores_gemma":[0.001807263,0.0002299615,0.9922258,0.00001935622,0.00002363522,0.00001800135,0.00007976308,0.00006494066,0.004931636,0.00005706548,0.000261812,0.0002808048],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984025,0.0002143296,0.0001913255,0.0001528515,0.00008290569,0.0003978879,0.00003064063,0.00002749232,0.0005000216],"genre_scores_gemma":[0.9984326,0.0001236643,0.0003437634,0.000109415,0.00004523563,0.0004144601,0.000253916,0.00002291251,0.0002540617],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4309022,"threshold_uncertainty_score":0.6721371,"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."}}