{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003277952,0.0001228126,0.000100578,0.0000488206,0.0003195665,0.0000605106,0.0004307446,0.0000891953,0.000009178357],"category_scores_gemma":[0.00006426129,0.00009463657,0.00005162905,0.0001924082,0.000341439,0.000003430229,0.0002462466,0.0001676478,0.00001191686],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003368708,"about_ca_system_score_gemma":0.0001406506,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008968294,"about_ca_topic_score_gemma":0.0001011163,"domain_scores_codex":[0.9987164,0.00003648223,0.0001993552,0.0002751391,0.0003659922,0.0004067043],"domain_scores_gemma":[0.9993697,0.00001784753,0.00003850168,0.0003034762,0.0001874348,0.00008299075],"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":[0.00005150394,0.00006700708,0.00008292537,0.00000983759,0.00004644207,0.000002633441,0.0001708333,0.00004077644,0.9942644,0.00008032972,0.002581048,0.002602211],"study_design_scores_gemma":[0.0009746223,0.0003413328,0.00133957,0.00001299405,0.000003901715,0.00001218349,0.0002152195,0.0001899401,0.9782288,0.0003973028,0.01815421,0.0001298919],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968655,0.0006002842,0.0006019776,0.0004026925,0.0000733995,0.0002506844,0.00003266536,0.000006169469,0.001166668],"genre_scores_gemma":[0.9981106,0.0005777162,0.0004401023,0.00008155385,0.00002579562,0.00002997142,0.00004142801,0.00003048611,0.0006623275],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01603562,"threshold_uncertainty_score":0.3859167,"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."}}