{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002509371,0.0007203814,0.0003120346,0.0006030182,0.000340224,0.0002572805,0.0002311295,0.0004540819,0.002741935],"category_scores_gemma":[0.0004402291,0.0001195956,0.000343974,0.000468983,0.000586269,0.00005842539,0.0002110319,0.0003022101,0.0005035049],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002245296,"about_ca_system_score_gemma":0.0001648151,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001778815,"about_ca_topic_score_gemma":0.002657702,"domain_scores_codex":[0.9998,0.00004731673,0.00002455233,0.00006367624,0.00004260949,0.00002182139],"domain_scores_gemma":[0.9997092,0.00006785386,0.000155071,0.00001820209,0.00002177548,0.00002785971],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.002014277,0.0002635863,0.3492309,0.0002648426,0.0004313838,0.0491063,0.0004434784,0.001715139,0.558563,0.0007408056,0.0009747908,0.03625146],"study_design_scores_gemma":[0.0001962838,0.0007652192,0.8110165,0.0001604314,0.0004506109,0.09003672,0.0003151106,0.002901189,0.08585345,0.0004958658,0.007763403,0.00004533611],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977351,0.0004480779,0.0005462652,0.00007820594,0.00001576532,0.00001241221,0.0002476526,0.00002691428,0.0008895556],"genre_scores_gemma":[0.998737,0.0001313564,0.0005766505,0.00009396026,0.00001966543,0.000005121001,0.000179459,0.000008513869,0.0002482067],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002741935,"threshold_uncertainty_score":0.009172678,"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."}}