{"id":"W4385875163","doi":"10.1186/s12967-023-04406-x","title":"Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function","year":2023,"lang":"en","type":"article","venue":"Journal of Translational Medicine","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"H2020 Marie Skłodowska-Curie Actions; Canadian Institutes of Health Research; ProQR Therapeutics; European Commission","keywords":"ABCA4; Stargardt disease; Exon skipping; Function (biology); Computational biology; Exon; Medicine; Genetics; Biology; Computer science; Bioinformatics; Phenotype","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001249761,0.0003185263,0.0002179597,0.0001766653,0.0001532332,0.0001334834,0.0001139511,0.0002970831,0.001682699],"category_scores_gemma":[0.0001473359,0.00008028666,0.0002311101,0.0001301534,0.0003160633,0.0000632658,0.0001448403,0.0002840152,0.0003393225],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002686347,"about_ca_system_score_gemma":0.0002232586,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006796498,"about_ca_topic_score_gemma":0.001572914,"domain_scores_codex":[0.9998847,0.00001883544,0.00001529724,0.00002687306,0.00003593534,0.00001842562],"domain_scores_gemma":[0.9998587,0.00003775657,0.00005602026,0.00001056286,0.00000872962,0.00002817021],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.000130358,0.00002564637,0.001934192,0.0000419505,0.00001233901,0.001949361,0.00001696493,0.00009987869,0.9941061,0.0001288815,0.00004906419,0.001505218],"study_design_scores_gemma":[0.00006172404,0.0005314533,0.02897067,0.00001856735,0.00007565012,0.01574797,0.0000501635,0.001834185,0.9483153,0.0002172968,0.004164304,0.0000128034],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977691,0.0002617911,0.001185098,0.00005382939,0.00001557775,0.0000134227,0.0001859114,0.00003331015,0.0004819951],"genre_scores_gemma":[0.997862,0.0001344187,0.001248771,0.00003904617,0.000005075434,0.000009170401,0.000196941,0.00001263905,0.0004918358],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001682699,"threshold_uncertainty_score":0.005629182,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01813996213326987,"score_gpt":0.2677341903951301,"score_spread":0.2495942282618602,"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."}}