{"id":"W2057205033","doi":"10.1016/j.nbd.2006.08.026","title":"Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa","year":2007,"lang":"en","type":"article","venue":"Neurobiology of Disease","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":39,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia","funders":"National Institute of General Medical Sciences; National Cancer Institute; National Eye Institute; National Institute on Aging","keywords":"Retinitis pigmentosa; RNA splicing; Biology; Genetics; Gene; Alternative splicing; Exon; Cell biology; 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":[0.0003114286,0.000784405,0.0005895267,0.001707587,0.0006094882,0.000372984,0.0005568055,0.001295725,0.001973335],"category_scores_gemma":[0.00107379,0.0003448617,0.0004613643,0.0006684235,0.0009145392,0.0002045305,0.0004495954,0.0004595269,0.0003889009],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002907385,"about_ca_system_score_gemma":0.0002229814,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001003326,"about_ca_topic_score_gemma":0.001156372,"domain_scores_codex":[0.9996556,0.00006002576,0.00006225961,0.00006493601,0.0001009509,0.00005630843],"domain_scores_gemma":[0.9992175,0.0002898025,0.0002435788,0.00005465034,0.00006465962,0.0001296929],"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":[0.001658052,0.0002589612,0.0281037,0.0001515751,0.0001733445,0.1346543,0.0004630478,0.0005234519,0.8263696,0.0006133518,0.0003985521,0.006631953],"study_design_scores_gemma":[0.0003381193,0.001027056,0.3503371,0.00005283722,0.0003610966,0.4181037,0.0005397544,0.004217423,0.2201521,0.001124124,0.003648086,0.00009867621],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997894,0.000287631,0.0005562119,0.0000581411,0.00001540949,0.00002629746,0.000121413,0.00003593394,0.001005012],"genre_scores_gemma":[0.9986454,0.00009985043,0.0007437505,0.00003939074,0.00001081492,0.000009809874,0.00009862598,0.00001154128,0.0003408801],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001973335,"threshold_uncertainty_score":0.006601453,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003987731953995778,"score_gpt":0.2205403565715875,"score_spread":0.2165526246175917,"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."}}