{"id":"W4224979764","doi":"10.1167/iovs.63.4.20","title":"<i>ABCA4</i>c.859-25A&amp;gt;G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease","year":2022,"lang":"en","type":"article","venue":"Investigative Ophthalmology & Visual Science","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"National Institutes of Health; Stichting tot Verbetering van het Lot der Blinden; Stichting Blindenhulp; Stichting Steunfonds Uitzicht; Stichting voor Ooglijders; Stichting Blinden-Penning; Landelijke Stichting voor Blinden en Slechtzienden; Oogfonds","keywords":"ABCA4; Stargardt disease; Biology; Genetics; Intron; Retinitis pigmentosa; RNA splicing; Proband; Exon; splice; Compound heterozygosity; Mutation; Phenotype; Molecular biology; Gene; RNA","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":["sts"],"consensus_categories":[],"category_scores_codex":[0.001134188,0.0002750397,0.0001903972,0.00009804368,0.001352284,0.0001033913,0.0005269436,0.00006571192,0.0001669255],"category_scores_gemma":[0.001007779,0.0002142654,0.00007120353,0.0008131907,0.002517681,0.00003425595,0.0003892849,0.000297653,0.00001436598],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001621772,"about_ca_system_score_gemma":0.0009078014,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009487574,"about_ca_topic_score_gemma":0.00002727107,"domain_scores_codex":[0.9972431,0.0005012477,0.000264436,0.0007847371,0.0006213948,0.0005850756],"domain_scores_gemma":[0.9988481,0.0001112915,0.0002863933,0.0002943058,0.0001968448,0.0002630545],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004361897,0.0002413092,0.5498053,0.00001684853,0.0001265019,0.0001848172,0.004220981,0.000596687,0.4432606,0.00005872274,0.0007145238,0.0003374545],"study_design_scores_gemma":[0.001176271,0.002086447,0.9404278,0.00005099126,0.00006934634,0.0003272204,0.00127418,0.0002670322,0.04875756,0.004238795,0.0005995564,0.0007247876],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975919,0.0001476639,0.0000382915,0.000817726,0.0001794026,0.0005020063,0.00003921261,0.00002572293,0.0006580558],"genre_scores_gemma":[0.9978426,0.000003798883,0.0002913617,0.001113411,0.00004355629,0.0001626125,0.0001756854,0.00002480334,0.0003422191],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3945031,"threshold_uncertainty_score":0.9999478,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02302797234021363,"score_gpt":0.2946832628079171,"score_spread":0.2716552904677034,"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."}}