{"id":"W4406646264","doi":"10.1038/s43856-024-00712-7","title":"Preclinical assessment of splicing modulation therapy for ABCA4 variant c.768G>T in Stargardt disease","year":2025,"lang":"en","type":"article","venue":"Communications Medicine","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"Stichting tot Verbetering van het Lot der Blinden; Stichting Blindenhulp; Landelijke Stichting voor Blinden en Slechtzienden; Stichting Blinden-Penning; Stichting voor Ooglijders; Stichting Steunfonds Uitzicht; Radboud Universitair Medisch Centrum; Oogfonds; Algemene Nederlandse Vereniging ter voorkoming van Blindheid; Retina UK; Foundation Fighting Blindness","keywords":"Stargardt disease; ABCA4; Exon; Biology; RNA splicing; In vivo; Molecular biology; Exon skipping; Intron; Alternative splicing; Cell biology; Cancer research; RNA; Genetics; Gene; Phenotype","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":[0.0005164352,0.0004455241,0.0004311376,0.0002547136,0.0001623378,0.0003463076,0.0004183777,0.0005848923,0.001973654],"category_scores_gemma":[0.0002477317,0.0001143317,0.0002869132,0.0001449127,0.0003205014,0.0002203194,0.0001300911,0.0009430898,0.0003713525],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003522423,"about_ca_system_score_gemma":0.0003934364,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000578955,"about_ca_topic_score_gemma":0.0008872523,"domain_scores_codex":[0.999858,0.00004407162,0.000009105436,0.00002231742,0.00003178667,0.00003465726],"domain_scores_gemma":[0.999833,0.00003933422,0.00003182992,0.00001644461,0.00002220134,0.00005715825],"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":[0.005362326,0.00619789,0.0007730254,0.0002590739,0.00009469233,0.00028277,0.00009758542,0.001663011,0.9580152,0.0004187036,0.0008749291,0.02596087],"study_design_scores_gemma":[0.003240694,0.2239319,0.005459541,0.0000601366,0.000386391,0.0008995873,0.0001386974,0.005198251,0.7511659,0.0003917135,0.009099813,0.00002740455],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.992183,0.002380479,0.002161887,0.0002281704,0.0001098274,0.000353715,0.0003425152,0.0001128312,0.002127433],"genre_scores_gemma":[0.9952906,0.001312444,0.001492229,0.0001005724,0.0000225437,0.0002124082,0.0004071823,0.00001634884,0.001145633],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001973654,"threshold_uncertainty_score":0.006602526,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04027591415361016,"score_gpt":0.4047414174594471,"score_spread":0.3644655033058369,"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."}}