{"id":"W2084301939","doi":"10.1093/nar/gkh349","title":"The major form of MeCP2 has a novel N-terminus generated by alternative splicing","year":2004,"lang":"en","type":"article","venue":"Nucleic Acids Research","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":264,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Institute of Circulatory and Respiratory Health; Darwin Trust of Edinburgh; Wellcome Trust","keywords":"MECP2; Biology; Gene isoform; Alternative splicing; RNA splicing; Genetics; Exon; Intron; Open reading frame; Rett syndrome; Gene; Messenger RNA; Molecular biology; Cell biology; RNA; Peptide sequence; Phenotype","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009954209,0.0004884546,0.0002472076,0.0002001936,0.0002360345,0.000340893,0.0003005662,0.0003624565,0.001639532],"category_scores_gemma":[0.0002432862,0.0001551902,0.0003177535,0.0002351728,0.000225818,0.0002017124,0.000272853,0.0003548439,0.001621825],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003509576,"about_ca_system_score_gemma":0.0002248064,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000776424,"about_ca_topic_score_gemma":0.001077032,"domain_scores_codex":[0.9999119,0.000004512053,0.00000624155,0.00003386335,0.00002965152,0.00001382334],"domain_scores_gemma":[0.9998174,0.0000218263,0.00005458504,0.00002490104,0.00004137625,0.00003996533],"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":[0.00006989028,0.00000784757,0.0006192926,0.00003454811,0.000008284592,0.0005627075,0.0000118862,0.00003352097,0.993964,0.0001771305,0.0001435782,0.004367239],"study_design_scores_gemma":[0.00005913874,0.000280868,0.04692311,0.00002559195,0.0000862103,0.01621864,0.0000644632,0.001186332,0.8894439,0.0005492352,0.04513583,0.00002665132],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9622103,0.00942436,0.019557,0.0004626903,0.0001795147,0.00004768685,0.002313504,0.0003047914,0.005500136],"genre_scores_gemma":[0.9644626,0.002290839,0.01379536,0.0002686613,0.0001327062,0.00004742659,0.006394231,0.00006689421,0.01254133],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001639532,"threshold_uncertainty_score":0.005484819,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03934579446760855,"score_gpt":0.3138887271970602,"score_spread":0.2745429327294516,"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."}}