{"id":"W4392747117","doi":"10.3390/genes15030356","title":"Variation of FMRP Expression in Peripheral Blood Mononuclear Cells from Individuals with Fragile X Syndrome","year":2024,"lang":"en","type":"article","venue":"Genes","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Advancing Translational Sciences; National Institute of Child Health and Human Development; Intellectual and Developmental Disabilities Research Center; National Institutes of Health; Azrieli Foundation","keywords":"FMR1; Fragile X syndrome; Allele; Biology; Genetics; X chromosome; Trinucleotide repeat expansion; Autism; Gene; Medicine; Psychiatry","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":[0.00004367875,0.00009864302,0.00009210734,0.00004097158,0.00001917909,0.00002072012,0.00009184694,0.0000768286,0.00006143388],"category_scores_gemma":[0.000002558035,0.000085735,0.00002793066,0.00007910624,0.00002203756,0.000003398728,0.00006431309,0.00004081776,0.000005296232],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003507923,"about_ca_system_score_gemma":0.00003840619,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004199784,"about_ca_topic_score_gemma":0.00002340519,"domain_scores_codex":[0.9993653,0.00002606927,0.0001347097,0.0002612012,0.00009854939,0.0001142215],"domain_scores_gemma":[0.9997889,0.000005316396,0.00002783399,0.0001376194,0.00001301905,0.00002731264],"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":[0.00001499083,0.0000505408,0.002766909,0.00002012483,0.00003269346,0.000008966157,0.0002540369,0.0009415795,0.9949222,0.000002984707,0.00004820977,0.0009367681],"study_design_scores_gemma":[0.0003846062,0.0002318049,0.1340924,0.00005719978,0.00001887358,0.000005210371,0.0000786984,0.0001214072,0.862555,0.0001362315,0.002163626,0.0001549412],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971858,0.001979732,0.000437856,0.00003384955,0.00008872077,0.0001029048,0.00004715268,0.000007777186,0.0001162243],"genre_scores_gemma":[0.9958518,0.0004098731,0.003496764,0.00003611724,0.00001364125,0.00001249569,0.00008129572,0.00002114461,0.00007690801],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1323672,"threshold_uncertainty_score":0.3496172,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004889271803394058,"score_gpt":0.19747724217536,"score_spread":0.192587970371966,"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."}}