{"id":"W2053235668","doi":"10.1038/ng1327","title":"A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome","year":2004,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":346,"is_retracted":false,"has_abstract":false,"ca_institutions":"Centre for Addiction and Mental Health; Victoria General Hospital; University of Toronto; Hospital for Sick Children","funders":"Canadian Institutes of Health Research","keywords":"Rett syndrome; MECP2; Biology; Gene isoform; Open reading frame; Genetics; Mutation; Gene; Peptide sequence; Phenotype","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001829783,0.0003433231,0.0002689105,0.00009566386,0.0001494186,0.0001799315,0.0009570263,0.0005218076,0.00002044208],"category_scores_gemma":[0.0001836589,0.00033996,0.00009991782,0.0003351438,0.0000395167,0.00000685743,0.0008264336,0.0003610089,0.0000615192],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005249677,"about_ca_system_score_gemma":0.000415803,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006858454,"about_ca_topic_score_gemma":0.0003183841,"domain_scores_codex":[0.9979495,0.00003148749,0.0003705859,0.0007870328,0.0003078323,0.0005535378],"domain_scores_gemma":[0.9987237,0.000005078147,0.0001139137,0.0007118465,0.0001178573,0.0003276406],"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":[0.0001970713,0.0001529237,0.0006071985,0.00007168952,0.0001203752,0.00005218556,0.0003171292,0.0008016558,0.9839002,0.0004196568,0.007968743,0.005391187],"study_design_scores_gemma":[0.002785539,0.001819866,0.03081119,0.0003105717,0.00007582557,0.0002709294,0.0001280409,0.0000126442,0.7931873,0.007003659,0.1622789,0.001315537],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9921413,0.002241701,0.00104804,0.00149394,0.000326134,0.001571547,0.00001997791,0.00002781088,0.001129538],"genre_scores_gemma":[0.9612422,0.0003611699,0.03238393,0.002341091,0.00006411039,0.0000771355,0.000114713,0.00008178161,0.003333861],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1907129,"threshold_uncertainty_score":0.9999052,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009936155156947749,"score_gpt":0.259332060004432,"score_spread":0.2493959048474843,"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."}}