{"id":"W1985501728","doi":"10.1038/emboj.2010.21","title":"Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients","year":2010,"lang":"en","type":"article","venue":"The EMBO Journal","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":365,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Jewish General Hospital","funders":"National Institute of Neurological Disorders and Stroke; National Institute on Aging; National Institutes of Health; Biotechnology and Biological Sciences Research Council; National Institute of Dental and Craniofacial Research; Institut National de la Santé et de la Recherche Médicale; Wellcome Trust","keywords":"FMR1; RNA-binding protein; RNA splicing; Alternative splicing; Ataxia; RNA; Gait Ataxia; Trinucleotide repeat expansion; Biology; Intron; Neuroscience; Cell biology; Genetics; Exon; Gene","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":[0.0003713846,0.002048158,0.0008653278,0.002265546,0.001104622,0.0007552152,0.0008665406,0.002430491,0.006041274],"category_scores_gemma":[0.001639377,0.0006391113,0.0007112761,0.001597884,0.001137716,0.0006199952,0.0005203169,0.0008593127,0.0007583509],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002505955,"about_ca_system_score_gemma":0.000271107,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001078898,"about_ca_topic_score_gemma":0.0007461275,"domain_scores_codex":[0.9994886,0.00008306826,0.0001126751,0.0001275051,0.00009886507,0.00008917102],"domain_scores_gemma":[0.998882,0.0003271468,0.0005213133,0.00006105955,0.00006072459,0.0001477381],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.00563456,0.0003089821,0.3524775,0.0002583457,0.0006106559,0.4908366,0.0009222049,0.0008929357,0.1265853,0.001069461,0.001752973,0.01865053],"study_design_scores_gemma":[0.0001716078,0.0006288448,0.3226292,0.0000593886,0.0005940953,0.6544733,0.0004857596,0.001620315,0.01641236,0.001095144,0.001762842,0.00006711216],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973659,0.0005995727,0.0004528856,0.0002588045,0.0000314442,0.0000122503,0.0001927694,0.0000584845,0.001028006],"genre_scores_gemma":[0.9990656,0.0001477743,0.0002737568,0.00006718342,0.00005190538,0.000005994409,0.00009053614,0.00001635006,0.0002809325],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006041274,"threshold_uncertainty_score":0.02021015,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007357601479328327,"score_gpt":0.21510040081866,"score_spread":0.2077427993393317,"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."}}