{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001681388,0.0007835813,0.000395973,0.0008619148,0.000494307,0.0006084762,0.0006074813,0.000986448,0.00138841],"category_scores_gemma":[0.0005943167,0.0002355628,0.0005802427,0.0003894858,0.0007490198,0.0004163641,0.0004205013,0.0009442416,0.0007370358],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005605189,"about_ca_system_score_gemma":0.0003189587,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008944941,"about_ca_topic_score_gemma":0.0008739675,"domain_scores_codex":[0.9998249,0.00001171417,0.00002829256,0.00005746243,0.00003803236,0.00003968181],"domain_scores_gemma":[0.9995543,0.00012056,0.0001269718,0.00003472374,0.0000512584,0.0001120757],"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":[0.0005744585,0.00009125734,0.00322869,0.00005808441,0.00002559838,0.02944912,0.000139611,0.0001355924,0.9615579,0.001197459,0.0002844405,0.003257872],"study_design_scores_gemma":[0.0002590622,0.0009002096,0.1108678,0.00005303304,0.0002913327,0.158213,0.0005968548,0.002755758,0.7054662,0.003131657,0.01734662,0.0001185921],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9940302,0.0007765079,0.002641099,0.0002720292,0.0001780017,0.00003289663,0.0004077335,0.00007927547,0.001582251],"genre_scores_gemma":[0.9932293,0.0005121775,0.003488749,0.0001451545,0.0001813132,0.00003061577,0.0009718791,0.00005720914,0.001383592],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00138841,"threshold_uncertainty_score":0.004644692,"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."}}