{"id":"W2139899944","doi":"10.1093/hmg/10.23.2727","title":"Regulation of murine survival motor neuron (Smn) protein levels by modifying Smn exon 7 splicing","year":2001,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":57,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; University of Ottawa","funders":"National Institute of Neurological Disorders and Stroke","keywords":"SMN1; Exon; Biology; Minigene; Spinal muscular atrophy; Molecular biology; Exon trapping; Tandem exon duplication; Alternative splicing; Genetics; Exonic splicing enhancer; RNA splicing; 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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002166083,0.0002375062,0.0003466921,0.0001736591,0.0001079864,0.00002384748,0.0001810179,0.0001214052,0.0001555482],"category_scores_gemma":[0.00005829274,0.0002508408,0.0001593464,0.0002583912,0.0001161553,0.0000261147,0.0001183469,0.0002294232,0.0000120689],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003907373,"about_ca_system_score_gemma":0.00006702656,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005814828,"about_ca_topic_score_gemma":0.00000919576,"domain_scores_codex":[0.9977843,0.0001464085,0.0004286978,0.0004480436,0.0007624842,0.0004300397],"domain_scores_gemma":[0.9988279,0.00001465652,0.0001253427,0.0006573768,0.0001880629,0.000186698],"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":[0.00006792731,0.0001787859,0.002366213,0.0001560037,0.00004715606,0.00006380553,0.00005799701,0.000220199,0.9926193,0.0001454164,0.00005891441,0.004018261],"study_design_scores_gemma":[0.003285476,0.001236325,0.227998,0.0001778836,0.0001423526,0.00005944012,0.00007448822,0.003390633,0.7591745,0.0005132213,0.003545366,0.0004023761],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9841308,0.001115689,0.01172901,0.0001552917,0.000040864,0.001200714,0.000008058684,0.00004378549,0.001575766],"genre_scores_gemma":[0.9966431,0.00009547266,0.001358315,0.0001017558,0.00006584606,0.00003686308,0.00005063479,0.00008610122,0.001561921],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2334449,"threshold_uncertainty_score":0.9999944,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04733564715715026,"score_gpt":0.3178364320050903,"score_spread":0.27050078484794,"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."}}